Canonical Allele Identifier: CA832019799

Gene: CAV2

Linked Data

• dbSNP Id: rs1462796950
• MyVariant Identifiers: chr7:g.116148333C>A (hg19) ; chr7:g.116508279C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116508279C>A , CM000669.2:g.116508279C>A	GRCh38
NC_000007.13:g.116148333C>A , CM000669.1:g.116148333C>A	GRCh37
NC_000007.12:g.115935569C>A	NCBI36
NG_029920.1:g.13679C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222693.5:c.*2158C>A MANE Select	ENSP00000222693.4:n.*2158C>A
ENST00000222693.4:c.*2158C>A	ENSP00000222693.4:n.*2158C>A
NM_001206747.1:c.*2158C>A	NP_001193676.1:n.*2158C>A
NM_001206748.1:c.*2158C>A	NP_001193677.1:n.*2158C>A
NM_001233.4:c.*2158C>A	NP_001224.1:n.*2158C>A
NM_198212.2:c.*2120C>A	NP_937855.1:n.*2120C>A
NM_001233.5:c.*2158C>A MANE Select	NP_001224.1:n.*2158C>A
NM_001206747.2:c.*2158C>A	NP_001193676.1:n.*2158C>A
NM_001206748.2:c.*2158C>A	NP_001193677.1:n.*2158C>A
NM_198212.3:c.*2120C>A	NP_937855.1:n.*2120C>A