Canonical Allele Identifier: CA10625861

Gene: CA2

Linked Data

• ClinVar Variation Id: 363834
• ClinVar RCV Id: RCV000277175 ; RCV003727720
• dbSNP Id: rs886063149
• gnomAD v2: 8-86389342-G-A
• gnomAD v4: 8-85477113-G-A
• MyVariant Identifiers: chr8:g.86389342G>A (hg19) ; chr8:g.85477113G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85477113G>A , CM000670.2:g.85477113G>A	GRCh38
NC_000008.10:g.86389342G>A , CM000670.1:g.86389342G>A	GRCh37
NC_000008.9:g.86576594G>A	NCBI36
NG_007287.1:g.18097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285379.10:c.508-7G>A MANE Select	ENSP00000285379.4:n.508-7G>A
ENST00000285379.9:c.508-7G>A	ENSP00000285379.4:n.508-7G>A
ENST00000520127.5:c.*95-7G>A	ENSP00000428443.1:n.*95-7G>A
ENST00000522742.1:c.*282-7G>A	ENSP00000428947.1:n.*282-7G>A
NM_000067.2:c.508-7G>A	NP_000058.1:n.508-7G>A
NM_001293675.1:c.205-7G>A	NP_001280604.1:n.205-7G>A
NM_000067.3:c.508-7G>A MANE Select	NP_000058.1:n.508-7G>A
NM_001293675.2:c.205-7G>A	NP_001280604.1:n.205-7G>A