Canonical Allele Identifier: CA1736913145
Gene: CAV2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116508223A= , CM000669.2:g.116508223A= GRCh38
NC_000007.13:g.116148277A= , CM000669.1:g.116148277A= GRCh37
NC_000007.12:g.115935513A= NCBI36
NG_029920.1:g.13623A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222693.5:c.*2102A= MANE Select ENSP00000222693.4:n.*2102A=
ENST00000222693.4:c.*2102A= ENSP00000222693.4:n.*2102A=
NM_001206747.1:c.*2102A= NP_001193676.1:n.*2102A=
NM_001206748.1:c.*2102A= NP_001193677.1:n.*2102A=
NM_001233.4:c.*2102A= NP_001224.1:n.*2102A=
NM_198212.2:c.*2064A= NP_937855.1:n.*2064A=
NM_001233.5:c.*2102A= MANE Select NP_001224.1:n.*2102A=
NM_001206747.2:c.*2102A= NP_001193676.1:n.*2102A=
NM_001206748.2:c.*2102A= NP_001193677.1:n.*2102A=
NM_198212.3:c.*2064A= NP_937855.1:n.*2064A=