Canonical Allele Identifier: CA371428294

Gene: CA2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85473735A>C , CM000670.2:g.85473735A>C	GRCh38
NC_000008.10:g.86385964A>C , CM000670.1:g.86385964A>C	GRCh37
NC_000008.9:g.86573216A>C	NCBI36
NG_007287.1:g.14719A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000067.3:c.275A>C MANE Select	NP_000058.1:p.Gln92Pro
ENST00000285379.10:c.275A>C MANE Select	ENSP00000285379.4:p.Gln92Pro
NM_000067.2:c.275A>C	NP_000058.1:p.Gln92Pro
NM_001293675.1:c.49-589A>C	NP_001280604.1:n.49-589A>C
NM_001293675.2:c.49-589A>C	NP_001280604.1:n.49-589A>C
ENST00000285379.9:c.275A>C	ENSP00000285379.4:p.Gln92Pro
ENST00000518231.1:n.346A>C
ENST00000520127.5:c.233-589A>C	ENSP00000428443.1:n.233-589A>C
ENST00000520996.5:n.354A>C
ENST00000522742.1:c.*49A>C	ENSP00000428947.1:n.*49A>C