Canonical Allele Identifier: CA1736913155

Gene: CAV2

Linked Data

• dbSNP Id: rs1336167104

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116508227A>C , CM000669.2:g.116508227A>C	GRCh38
NC_000007.13:g.116148281A>C , CM000669.1:g.116148281A>C	GRCh37
NC_000007.12:g.115935517A>C	NCBI36
NG_029920.1:g.13627A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222693.5:c.*2106A>C MANE Select	ENSP00000222693.4:n.*2106A>C
ENST00000222693.4:c.*2106A>C	ENSP00000222693.4:n.*2106A>C
NM_001206747.1:c.*2106A>C	NP_001193676.1:n.*2106A>C
NM_001206748.1:c.*2106A>C	NP_001193677.1:n.*2106A>C
NM_001233.4:c.*2106A>C	NP_001224.1:n.*2106A>C
NM_198212.2:c.*2068A>C	NP_937855.1:n.*2068A>C
NM_001233.5:c.*2106A>C MANE Select	NP_001224.1:n.*2106A>C
NM_001206747.2:c.*2106A>C	NP_001193676.1:n.*2106A>C
NM_001206748.2:c.*2106A>C	NP_001193677.1:n.*2106A>C
NM_198212.3:c.*2068A>C	NP_937855.1:n.*2068A>C