Canonical Allele Identifier: CA165433301

Gene: CAV2

Linked Data

• dbSNP Id: rs1052990
• MyVariant Identifiers: chr7:g.116148370T>C (hg19) ; chr7:g.116508316T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116508316T>C , CM000669.2:g.116508316T>C	GRCh38
NC_000007.13:g.116148370T>C , CM000669.1:g.116148370T>C	GRCh37
NC_000007.12:g.115935606T>C	NCBI36
NG_029920.1:g.13716T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000222693.5:c.*2195T>C MANE Select	ENSP00000222693.4:n.*2195T>C
ENST00000222693.4:c.*2195T>C	ENSP00000222693.4:n.*2195T>C
NM_001206747.1:c.*2195T>C	NP_001193676.1:n.*2195T>C
NM_001206748.1:c.*2195T>C	NP_001193677.1:n.*2195T>C
NM_001233.4:c.*2195T>C	NP_001224.1:n.*2195T>C
NM_198212.2:c.*2157T>C	NP_937855.1:n.*2157T>C
NM_001233.5:c.*2195T>C MANE Select	NP_001224.1:n.*2195T>C
NM_001206747.2:c.*2195T>C	NP_001193676.1:n.*2195T>C
NM_001206748.2:c.*2195T>C	NP_001193677.1:n.*2195T>C
NM_198212.3:c.*2157T>C	NP_937855.1:n.*2157T>C