Canonical Allele Identifier: CA165433294

Gene: CAV2

Linked Data

• dbSNP Id: rs926580411
• gnomAD v2: 7-116148283-T-A
• gnomAD v3: 7-116508229-T-A
• gnomAD v4: 7-116508229-T-A
• MyVariant Identifiers: chr7:g.116148283T>A (hg19) ; chr7:g.116508229T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116508229T>A , CM000669.2:g.116508229T>A	GRCh38
NC_000007.13:g.116148283T>A , CM000669.1:g.116148283T>A	GRCh37
NC_000007.12:g.115935519T>A	NCBI36
NG_029920.1:g.13629T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222693.5:c.*2108T>A MANE Select	ENSP00000222693.4:n.*2108T>A
ENST00000222693.4:c.*2108T>A	ENSP00000222693.4:n.*2108T>A
NM_001206747.1:c.*2108T>A	NP_001193676.1:n.*2108T>A
NM_001206748.1:c.*2108T>A	NP_001193677.1:n.*2108T>A
NM_001233.4:c.*2108T>A	NP_001224.1:n.*2108T>A
NM_198212.2:c.*2070T>A	NP_937855.1:n.*2070T>A
NM_001233.5:c.*2108T>A MANE Select	NP_001224.1:n.*2108T>A
NM_001206747.2:c.*2108T>A	NP_001193676.1:n.*2108T>A
NM_001206748.2:c.*2108T>A	NP_001193677.1:n.*2108T>A
NM_198212.3:c.*2070T>A	NP_937855.1:n.*2070T>A