Description
Ellis van Creveld syndrome 2 [Source:HGNC Symbol;Acc:19747]
Gene Synonyms
LBN
Location
Chromosome 4: 5,544,499-5,711,275 reverse strand.
GRCh37:CM000666.1
About this gene
This gene has 5 transcripts (splice variants) and is associated with 6 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000310917.2 | EVC2-001 | 4828 | 1228aa | ENSP00000311683.2 | Protein coding | CCDS54718 | Q4W5A4 Q4W5B1 Q86UK5 | NM_001166136.1 | GENCODE basic, |
ENST00000344408.5 | EVC2-003 | 4390 | 1308aa | ENSP00000342144.5 | Protein coding | CCDS3382 | Q4W5A4 Q4W5B1 Q86UK5 | NM_147127.4 | GENCODE basic, |
ENST00000344938.1 | EVC2-201 | 3795 | 1246aa | ENSP00000339954.1 | Protein coding | Q4W5A4 Q86UK5 | - | GENCODE basic, | |
ENST00000475313.1 | EVC2-002 | 4456 | 1166aa | ENSP00000431981.1 | Nonsense mediated decay | Q4W5A4 Q86UK5 | - | - | |
ENST00000509670.1 | EVC2-004 | 4079 | 452aa | ENSP00000423876.1 | Nonsense mediated decay | E9PFT2 Q4W5A4 | - | - |