Canonical Allele Identifier: CA1736905227

Gene: CAV2

Linked Data

• dbSNP Id: rs2270188

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116500470G>A , CM000669.2:g.116500470G>A	GRCh38
NC_000007.13:g.116140524G>A , CM000669.1:g.116140524G>A	GRCh37
NC_000007.12:g.115927760G>A	NCBI36
NG_029920.1:g.5870G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222693.5:c.338+23G>A MANE Select	ENSP00000222693.4:n.338+23G>A
ENST00000222693.4:c.338+23G>A	ENSP00000222693.4:n.338+23G>A
ENST00000343213.2:c.150+539G>A	ENSP00000345679.2:n.150+539G>A
ENST00000393480.3:c.*19G>A	ENSP00000377120.2:n.*19G>A
ENST00000462876.5:n.1598+23G>A
ENST00000467035.5:n.1065+1129G>A
ENST00000472470.5:n.719+1129G>A
ENST00000477018.5:n.989+1129G>A
ENST00000478226.5:n.936+1129G>A
ENST00000484871.5:n.833+23G>A
ENST00000485561.5:n.440-5501G>A
ENST00000495841.1:n.404+23G>A
ENST00000498493.5:n.1438+23G>A
NM_001206747.1:c.299+23G>A	NP_001193676.1:n.299+23G>A
NM_001206748.1:c.89+23G>A	NP_001193677.1:n.89+23G>A
NM_001233.4:c.338+23G>A	NP_001224.1:n.338+23G>A
NM_198212.2:c.150+539G>A	NP_937855.1:n.150+539G>A
NM_001233.5:c.338+23G>A MANE Select	NP_001224.1:n.338+23G>A
NM_001206747.2:c.299+23G>A	NP_001193676.1:n.299+23G>A
NM_001206748.2:c.89+23G>A	NP_001193677.1:n.89+23G>A
NM_198212.3:c.150+539G>A	NP_937855.1:n.150+539G>A