Canonical Allele Identifier: CA10631662

Gene: CA2

Linked Data

• ClinVar Variation Id: 363842
• ClinVar RCV Id: RCV000340863
• dbSNP Id: rs886063153
• gnomAD v2: 8-86393580-T-C
• gnomAD v3: 8-85481351-T-C
• gnomAD v4: 8-85481351-T-C
• MyVariant Identifiers: chr8:g.86393580T>C (hg19) ; chr8:g.85481351T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85481351T>C , CM000670.2:g.85481351T>C	GRCh38
NC_000008.10:g.86393580T>C , CM000670.1:g.86393580T>C	GRCh37
NC_000008.9:g.86580832T>C	NCBI36
NG_007287.1:g.22335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285379.10:c.*562T>C MANE Select	ENSP00000285379.4:n.*562T>C
ENST00000285379.9:c.*562T>C	ENSP00000285379.4:n.*562T>C
NM_000067.2:c.*562T>C	NP_000058.1:n.*562T>C
NM_001293675.1:c.*562T>C	NP_001280604.1:n.*562T>C
NM_000067.3:c.*562T>C MANE Select	NP_000058.1:n.*562T>C
NM_001293675.2:c.*562T>C	NP_001280604.1:n.*562T>C