Canonical Allele Identifier: CA1736913143
Gene: CAV2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116508221A= , CM000669.2:g.116508221A= GRCh38
NC_000007.13:g.116148275A= , CM000669.1:g.116148275A= GRCh37
NC_000007.12:g.115935511A= NCBI36
NG_029920.1:g.13621A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222693.5:c.*2100A= MANE Select ENSP00000222693.4:n.*2100A=
ENST00000222693.4:c.*2100A= ENSP00000222693.4:n.*2100A=
NM_001206747.1:c.*2100A= NP_001193676.1:n.*2100A=
NM_001206748.1:c.*2100A= NP_001193677.1:n.*2100A=
NM_001233.4:c.*2100A= NP_001224.1:n.*2100A=
NM_198212.2:c.*2062A= NP_937855.1:n.*2062A=
NM_001233.5:c.*2100A= MANE Select NP_001224.1:n.*2100A=
NM_001206747.2:c.*2100A= NP_001193676.1:n.*2100A=
NM_001206748.2:c.*2100A= NP_001193677.1:n.*2100A=
NM_198212.3:c.*2062A= NP_937855.1:n.*2062A=