Canonical Allele Identifier: CA1736913197

Gene: CAV2

Linked Data

• dbSNP Id: rs1793290291

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116508278A>T , CM000669.2:g.116508278A>T	GRCh38
NC_000007.13:g.116148332A>T , CM000669.1:g.116148332A>T	GRCh37
NC_000007.12:g.115935568A>T	NCBI36
NG_029920.1:g.13678A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222693.5:c.*2157A>T MANE Select	ENSP00000222693.4:n.*2157A>T
ENST00000222693.4:c.*2157A>T	ENSP00000222693.4:n.*2157A>T
NM_001206747.1:c.*2157A>T	NP_001193676.1:n.*2157A>T
NM_001206748.1:c.*2157A>T	NP_001193677.1:n.*2157A>T
NM_001233.4:c.*2157A>T	NP_001224.1:n.*2157A>T
NM_198212.2:c.*2119A>T	NP_937855.1:n.*2119A>T
NM_001233.5:c.*2157A>T MANE Select	NP_001224.1:n.*2157A>T
NM_001206747.2:c.*2157A>T	NP_001193676.1:n.*2157A>T
NM_001206748.2:c.*2157A>T	NP_001193677.1:n.*2157A>T
NM_198212.3:c.*2119A>T	NP_937855.1:n.*2119A>T