Canonical Allele Identifier: CA347485058

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779091G>C (hg19) ; chr2:g.85551968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551968G>C , CM000664.2:g.85551968G>C	GRCh38
NC_000002.11:g.85779091G>C , CM000664.1:g.85779091G>C	GRCh37
NC_000002.10:g.85632602G>C	NCBI36
NG_011811.2:g.14567C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5931C>G
ENST00000482662.2:n.4338C>G
ENST00000685865.1:n.2290C>G
ENST00000687250.1:n.1990C>G
ENST00000687995.1:n.1805C>G
ENST00000688205.1:c.*1046C>G	ENSP00000509673.1:n.*1046C>G
ENST00000688788.1:n.1692C>G
ENST00000689276.1:c.1384C>G	ENSP00000510012.1:p.Arg462Gly
ENST00000689576.1:c.*72C>G	ENSP00000508712.1:n.*72C>G
ENST00000690108.1:c.*1109C>G	ENSP00000510617.1:n.*1109C>G
ENST00000690468.1:c.*5C>G	ENSP00000509078.1:n.*5C>G
ENST00000690595.1:c.778C>G	ENSP00000508979.1:p.Arg260Gly
ENST00000691348.1:c.*5C>G	ENSP00000509369.1:n.*5C>G
ENST00000691410.1:c.*1030C>G	ENSP00000508479.1:n.*1030C>G
ENST00000693287.1:c.769C>G	ENSP00000510264.1:p.Arg257Gly
ENST00000693681.1:c.766C>G	ENSP00000510789.1:p.Arg256Gly
ENST00000233838.9:c.1453C>G MANE Select	ENSP00000233838.3:p.Arg485Gly
ENST00000233838.8:c.1453C>G	ENSP00000233838.3:p.Arg485Gly
ENST00000430215.7:c.1282C>G	ENSP00000408045.3:p.Arg428Gly
ENST00000465637.5:n.179-3964C>G
NM_000821.5:c.1453C>G	NP_000812.2:p.Arg485Gly
NM_000821.6:c.1453C>G	NP_000812.2:p.Arg485Gly
NM_001142269.2:c.1282C>G	NP_001135741.1:p.Arg428Gly
NM_001142269.3:c.1282C>G	NP_001135741.1:p.Arg428Gly
XM_005264259.3:c.1453C>G	XP_005264316.1:p.Arg485Gly
XM_011532764.1:c.631C>G	XP_011531066.1:p.Arg211Gly
XM_011532765.1:c.631C>G	XP_011531067.1:p.Arg211Gly
XR_939677.1:n.1366C>G
XM_005264259.5:c.1453C>G	XP_005264316.1:p.Arg485Gly
XM_011532764.3:c.631C>G	XP_011531066.1:p.Arg211Gly
XM_011532765.3:c.631C>G	XP_011531067.1:p.Arg211Gly
XM_017003803.2:c.1282C>G	XP_016859292.1:p.Arg428Gly
XR_001738703.2:n.1366C>G
NM_000821.7:c.1453C>G MANE Select	NP_000812.2:p.Arg485Gly
NM_001142269.4:c.1282C>G	NP_001135741.1:p.Arg428Gly