Canonical Allele Identifier: CA114619
Gene: CA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 913
dbSNP Id: rs2228063
gnomAD v2: 8-86392989-A-G
gnomAD v3: 8-85480760-A-G
gnomAD v4: 8-85480760-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.85480760A>G , CM000670.2:g.85480760A>G GRCh38
NC_000008.10:g.86392989A>G , CM000670.1:g.86392989A>G GRCh37
NC_000008.9:g.86580241A>G NCBI36
NG_007287.1:g.21744A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000285379.10:c.754A>G MANE Select ENSP00000285379.4:p.Asn252Asp
ENST00000285379.9:c.754A>G ENSP00000285379.4:p.Asn252Asp
ENST00000520127.5:c.*341A>G ENSP00000428443.1:n.*341A>G
NM_000067.2:c.754A>G NP_000058.1:p.Asn252Asp
NM_001293675.1:c.451A>G NP_001280604.1:p.Asn151Asp
NM_000067.3:c.754A>G MANE Select NP_000058.1:p.Asn252Asp
NM_001293675.2:c.451A>G NP_001280604.1:p.Asn151Asp