Canonical Allele Identifier: CA1736913197
Gene: CAV2 HGNC NCBI

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