Canonical Allele Identifier: CA165433302

Gene: CAV2

Linked Data

• dbSNP Id: rs550867245
• gnomAD v3: 7-116508320-C-T
• gnomAD v4: 7-116508320-C-T
• MyVariant Identifiers: chr7:g.116148374C>T (hg19) ; chr7:g.116508320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116508320C>T , CM000669.2:g.116508320C>T	GRCh38
NC_000007.13:g.116148374C>T , CM000669.1:g.116148374C>T	GRCh37
NC_000007.12:g.115935610C>T	NCBI36
NG_029920.1:g.13720C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222693.5:c.*2199C>T MANE Select	ENSP00000222693.4:n.*2199C>T
ENST00000222693.4:c.*2199C>T	ENSP00000222693.4:n.*2199C>T
NM_001206747.1:c.*2199C>T	NP_001193676.1:n.*2199C>T
NM_001206748.1:c.*2199C>T	NP_001193677.1:n.*2199C>T
NM_001233.4:c.*2199C>T	NP_001224.1:n.*2199C>T
NM_198212.2:c.*2161C>T	NP_937855.1:n.*2161C>T
NM_001233.5:c.*2199C>T MANE Select	NP_001224.1:n.*2199C>T
NM_001206747.2:c.*2199C>T	NP_001193676.1:n.*2199C>T
NM_001206748.2:c.*2199C>T	NP_001193677.1:n.*2199C>T
NM_198212.3:c.*2161C>T	NP_937855.1:n.*2161C>T