Gene: ERCC2 ENSG00000104884

Description

excision repair cross-complementing rodent repair deficiency, complementation group 2 [Source:HGNC Symbol;Acc:3434]

Gene Synonyms

COFS2, EM9, MAG, MGC102762, MGC126218, MGC126219, TTD, XPD, XPDC

Location

Chromosome 19: 45,853,095-45,874,176 reverse strand.

GRCh37:CM000681.1

About this gene

This gene has 14 transcripts (splice variants) and is associated with 91 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000391945.4	ERCC2-001	4153	760aa	ENSP00000375809.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33049	A8MX75 K7EIT8 P18074	NM_000400.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000391941.2	ERCC2-005	2871	706aa	ENSP00000375805.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A8MX75 K7EIT8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000391944.3	ERCC2-203	2103	682aa	ENSP00000375808.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E7EVE9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000485403.2	ERCC2-006	1538	405aa	ENSP00000431229.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46112	K7EIT8 P18074	NM_001130867.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000391940.4	ERCC2-202	1300	405aa	ENSP00000375804.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46112	K7EIT8 P18074	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000586131.1	ERCC2-002	1007	292aa	ENSP00000464887.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		K7EIT8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000221481.6	ERCC2-201	745	127aa	ENSP00000221481.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4E0F6	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000586856.1	ERCC2-003	690	109aa	ENSP00000466998.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		K7ENL1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000587376.1	ERCC2-004	817	202aa	ENSP00000465593.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000591309.1	ERCC2-011	557	127aa	ENSP00000465207.1	Nonsense mediated decay		B4E0F6	-	-
ENST00000588652.1	ERCC2-008	2405	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000391942.2	ERCC2-007	1488	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000586441.1	ERCC2-010	682	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000586737.1	ERCC2-009	481	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: ERCC2 ENSG00000104884

Summary