Canonical Allele Identifier: CA832019762

Gene: CAV2

Linked Data

• dbSNP Id: rs1227311318
• gnomAD v3: 7-116508234-T-A
• gnomAD v4: 7-116508234-T-A
• MyVariant Identifiers: chr7:g.116148288T>A (hg19) ; chr7:g.116508234T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116508234T>A , CM000669.2:g.116508234T>A	GRCh38
NC_000007.13:g.116148288T>A , CM000669.1:g.116148288T>A	GRCh37
NC_000007.12:g.115935524T>A	NCBI36
NG_029920.1:g.13634T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222693.5:c.*2113T>A MANE Select	ENSP00000222693.4:n.*2113T>A
ENST00000222693.4:c.*2113T>A	ENSP00000222693.4:n.*2113T>A
NM_001206747.1:c.*2113T>A	NP_001193676.1:n.*2113T>A
NM_001206748.1:c.*2113T>A	NP_001193677.1:n.*2113T>A
NM_001233.4:c.*2113T>A	NP_001224.1:n.*2113T>A
NM_198212.2:c.*2075T>A	NP_937855.1:n.*2075T>A
NM_001233.5:c.*2113T>A MANE Select	NP_001224.1:n.*2113T>A
NM_001206747.2:c.*2113T>A	NP_001193676.1:n.*2113T>A
NM_001206748.2:c.*2113T>A	NP_001193677.1:n.*2113T>A
NM_198212.3:c.*2075T>A	NP_937855.1:n.*2075T>A