Canonical Allele Identifier: CA4796434
Gene: CA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288909
ClinVar RCV Id: RCV000373455 RCV000726247
dbSNP Id: rs573750741
ExAC: 8:86377699 G / A
gnomAD v2: 8-86377699-G-A
gnomAD v3: 8-85465470-G-A
gnomAD v4: 8-85465470-G-A
MyVariant Identifiers: chr8:g.86377699G>A (hg19) chr8:g.85465470G>A (hg38)
PubMed: PMID:1301935
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.85465470G>A , CM000670.2:g.85465470G>A GRCh38
NC_000008.10:g.86377699G>A , CM000670.1:g.86377699G>A GRCh37
NC_000008.9:g.86564951G>A NCBI36
NG_007287.1:g.6454G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000285379.10:c.232+1G>A MANE Select ENSP00000285379.4:n.232+1G>A
ENST00000285379.9:c.232+1G>A ENSP00000285379.4:n.232+1G>A
ENST00000518231.1:n.303+1G>A
ENST00000520127.5:c.232+1G>A ENSP00000428443.1:n.232+1G>A
ENST00000520996.5:n.311+1G>A
ENST00000522742.1:c.232+1G>A ENSP00000428947.1:n.232+1G>A
NM_000067.2:c.232+1G>A NP_000058.1:n.232+1G>A
NM_001293675.1:c.48+1G>A NP_001280604.1:n.48+1G>A
NM_000067.3:c.232+1G>A MANE Select NP_000058.1:n.232+1G>A
NM_001293675.2:c.48+1G>A NP_001280604.1:n.48+1G>A
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