Canonical Allele Identifier: CA347484942

Gene: GGCX

Linked Data

• gnomAD v4: 2-85551912-T-G
• MyVariant Identifiers: chr2:g.85779035T>G (hg19) ; chr2:g.85551912T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551912T>G , CM000664.2:g.85551912T>G	GRCh38
NC_000002.11:g.85779035T>G , CM000664.1:g.85779035T>G	GRCh37
NC_000002.10:g.85632546T>G	NCBI36
NG_011811.2:g.14623A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5987A>C
ENST00000482662.2:n.4394A>C
ENST00000685865.1:n.2346A>C
ENST00000687250.1:n.2046A>C
ENST00000687995.1:n.1861A>C
ENST00000688205.1:c.*1102A>C	ENSP00000509673.1:n.*1102A>C
ENST00000688788.1:n.1748A>C
ENST00000689276.1:c.1440A>C	ENSP00000510012.1:p.Gln480His
ENST00000689576.1:c.*128A>C	ENSP00000508712.1:n.*128A>C
ENST00000690108.1:c.*1165A>C	ENSP00000510617.1:n.*1165A>C
ENST00000690468.1:c.*61A>C	ENSP00000509078.1:n.*61A>C
ENST00000690595.1:c.834A>C	ENSP00000508979.1:p.Gln278His
ENST00000691348.1:c.*61A>C	ENSP00000509369.1:n.*61A>C
ENST00000691410.1:c.*1086A>C	ENSP00000508479.1:n.*1086A>C
ENST00000693287.1:c.825A>C	ENSP00000510264.1:p.Gln275His
ENST00000693681.1:c.822A>C	ENSP00000510789.1:p.Gln274His
ENST00000233838.9:c.1509A>C MANE Select	ENSP00000233838.3:p.Gln503His
ENST00000233838.8:c.1509A>C	ENSP00000233838.3:p.Gln503His
ENST00000430215.7:c.1338A>C	ENSP00000408045.3:p.Gln446His
ENST00000465637.5:n.179-3908A>C
NM_000821.5:c.1509A>C	NP_000812.2:p.Gln503His
NM_000821.6:c.1509A>C	NP_000812.2:p.Gln503His
NM_001142269.2:c.1338A>C	NP_001135741.1:p.Gln446His
NM_001142269.3:c.1338A>C	NP_001135741.1:p.Gln446His
XM_005264259.3:c.1509A>C	XP_005264316.1:p.Gln503His
XM_011532764.1:c.687A>C	XP_011531066.1:p.Gln229His
XM_011532765.1:c.687A>C	XP_011531067.1:p.Gln229His
XR_939677.1:n.1422A>C
XM_005264259.5:c.1509A>C	XP_005264316.1:p.Gln503His
XM_011532764.3:c.687A>C	XP_011531066.1:p.Gln229His
XM_011532765.3:c.687A>C	XP_011531067.1:p.Gln229His
XM_017003803.2:c.1338A>C	XP_016859292.1:p.Gln446His
XR_001738703.2:n.1422A>C
NM_000821.7:c.1509A>C MANE Select	NP_000812.2:p.Gln503His
NM_001142269.4:c.1338A>C	NP_001135741.1:p.Gln446His