Canonical Allele Identifier: CA1736913227

Gene: CAV2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116508316T= , CM000669.2:g.116508316T=	GRCh38
NC_000007.13:g.116148370T= , CM000669.1:g.116148370T=	GRCh37
NC_000007.12:g.115935606T=	NCBI36
NG_029920.1:g.13716T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001233.5:c.*2195T= MANE Select	NP_001224.1:n.*2195T=
ENST00000222693.5:c.*2195T= MANE Select	ENSP00000222693.4:n.*2195T=
NM_001206747.1:c.*2195T=	NP_001193676.1:n.*2195T=
NM_001206747.2:c.*2195T=	NP_001193676.1:n.*2195T=
NM_001206748.1:c.*2195T=	NP_001193677.1:n.*2195T=
NM_001206748.2:c.*2195T=	NP_001193677.1:n.*2195T=
NM_001233.4:c.*2195T=	NP_001224.1:n.*2195T=
NM_198212.2:c.*2157T=	NP_937855.1:n.*2157T=
NM_198212.3:c.*2157T=	NP_937855.1:n.*2157T=
ENST00000222693.4:c.*2195T=	ENSP00000222693.4:n.*2195T=