Canonical Allele Identifier: CA1736913111

Gene: CAV2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116508168C= , CM000669.2:g.116508168C=	GRCh38
NC_000007.13:g.116148222C= , CM000669.1:g.116148222C=	GRCh37
NC_000007.12:g.115935458C=	NCBI36
NG_029920.1:g.13568C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222693.5:c.*2047C= MANE Select	ENSP00000222693.4:n.*2047C=
ENST00000222693.4:c.*2047C=	ENSP00000222693.4:n.*2047C=
NM_001206747.1:c.*2047C=	NP_001193676.1:n.*2047C=
NM_001206748.1:c.*2047C=	NP_001193677.1:n.*2047C=
NM_001233.4:c.*2047C=	NP_001224.1:n.*2047C=
NM_198212.2:c.*2009C=	NP_937855.1:n.*2009C=
NM_001233.5:c.*2047C= MANE Select	NP_001224.1:n.*2047C=
NM_001206747.2:c.*2047C=	NP_001193676.1:n.*2047C=
NM_001206748.2:c.*2047C=	NP_001193677.1:n.*2047C=
NM_198212.3:c.*2009C=	NP_937855.1:n.*2009C=