Canonical Allele Identifier: CA347487131

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780171C>T (hg19) ; chr2:g.85553048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553048C>T , CM000664.2:g.85553048C>T	GRCh38
NC_000002.11:g.85780171C>T , CM000664.1:g.85780171C>T	GRCh37
NC_000002.10:g.85633682C>T	NCBI36
NG_011811.2:g.13487G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5222G>A
ENST00000482662.2:n.3629G>A
ENST00000685865.1:n.1581G>A
ENST00000687250.1:n.1281G>A
ENST00000687995.1:n.1530G>A
ENST00000688205.1:c.*771G>A	ENSP00000509673.1:n.*771G>A
ENST00000688788.1:n.1417G>A
ENST00000689276.1:c.1109G>A	ENSP00000510012.1:p.Gly370Glu
ENST00000689576.1:c.1178G>A	ENSP00000508712.1:p.Gly393Glu
ENST00000690108.1:c.*834G>A	ENSP00000510617.1:n.*834G>A
ENST00000690468.1:c.899G>A	ENSP00000509078.1:p.Gly300Glu
ENST00000690595.1:c.503G>A	ENSP00000508979.1:p.Gly168Glu
ENST00000691348.1:c.1007G>A	ENSP00000509369.1:p.Gly336Glu
ENST00000691410.1:c.*755G>A	ENSP00000508479.1:n.*755G>A
ENST00000693287.1:c.494G>A	ENSP00000510264.1:p.Gly165Glu
ENST00000693681.1:c.491G>A	ENSP00000510789.1:p.Gly164Glu
ENST00000233838.9:c.1178G>A MANE Select	ENSP00000233838.3:p.Gly393Glu
ENST00000233838.8:c.1178G>A	ENSP00000233838.3:p.Gly393Glu
ENST00000430215.7:c.1007G>A	ENSP00000408045.3:p.Gly336Glu
ENST00000465637.5:n.179-5044G>A
ENST00000473665.1:n.671G>A
ENST00000482662.1:n.595G>A
NM_000821.5:c.1178G>A	NP_000812.2:p.Gly393Glu
NM_000821.6:c.1178G>A	NP_000812.2:p.Gly393Glu
NM_001142269.2:c.1007G>A	NP_001135741.1:p.Gly336Glu
NM_001142269.3:c.1007G>A	NP_001135741.1:p.Gly336Glu
XM_005264259.3:c.1178G>A	XP_005264316.1:p.Gly393Glu
XM_011532764.1:c.356G>A	XP_011531066.1:p.Gly119Glu
XM_011532765.1:c.356G>A	XP_011531067.1:p.Gly119Glu
XR_939677.1:n.1243G>A
XM_005264259.5:c.1178G>A	XP_005264316.1:p.Gly393Glu
XM_011532764.3:c.356G>A	XP_011531066.1:p.Gly119Glu
XM_011532765.3:c.356G>A	XP_011531067.1:p.Gly119Glu
XM_017003803.2:c.1007G>A	XP_016859292.1:p.Gly336Glu
XR_001738703.2:n.1243G>A
NM_000821.7:c.1178G>A MANE Select	NP_000812.2:p.Gly393Glu
NM_001142269.4:c.1007G>A	NP_001135741.1:p.Gly336Glu