Canonical Allele Identifier: CA10625861
Community Standard Title: NM_000067.3(CA2):c.508-7G>A
Gene: CA2 HGNC NCBI
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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
NM_000067.3:c.508-7G>A MANE Select NP_000058.1:n.508-7G>A
ENST00000285379.10:c.508-7G>A MANE Select ENSP00000285379.4:n.508-7G>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_001293675.2:c.205-7G>A NP_001280604.1:n.205-7G>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
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