Transcript: ENST00000463147.1 USH2A-004

Description

Usher syndrome 2A (autosomal recessive, mild) [Source:HGNC Symbol;Acc:12601]

Gene Synonyms

RP39, US2, USH2, dJ1111A8.1

Location

About this transcript

This transcript has 2 exons, is associated with 933 variant alleles and maps to 63 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000366943.2	USH2A-201	18955	5226aa	ENSP00000355910.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		O75445	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000307340.3	USH2A-002	18883	5202aa	ENSP00000305941.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS31025	O75445	NM_206933.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000366942.3	USH2A-001	6320	1546aa	ENSP00000355909.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1516	O75445	NM_007123.5	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000481786.1	USH2A-003	626	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000463147.1	USH2A-004	618	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 2, Coding exons: 0, Transcript length: 618 bps,

Incomplete CDS

5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete

Version

ENST00000463147.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000128313 (version 1)