Canonical Allele Identifier: CA1736913158
Gene: CAV2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116508229T= , CM000669.2:g.116508229T= GRCh38
NC_000007.13:g.116148283T= , CM000669.1:g.116148283T= GRCh37
NC_000007.12:g.115935519T= NCBI36
NG_029920.1:g.13629T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222693.5:c.*2108T= MANE Select ENSP00000222693.4:n.*2108T=
ENST00000222693.4:c.*2108T= ENSP00000222693.4:n.*2108T=
NM_001206747.1:c.*2108T= NP_001193676.1:n.*2108T=
NM_001206748.1:c.*2108T= NP_001193677.1:n.*2108T=
NM_001233.4:c.*2108T= NP_001224.1:n.*2108T=
NM_198212.2:c.*2070T= NP_937855.1:n.*2070T=
NM_001233.5:c.*2108T= MANE Select NP_001224.1:n.*2108T=
NM_001206747.2:c.*2108T= NP_001193676.1:n.*2108T=
NM_001206748.2:c.*2108T= NP_001193677.1:n.*2108T=
NM_198212.3:c.*2070T= NP_937855.1:n.*2070T=