Canonical Allele Identifier: CA347487221

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780192C>G (hg19) ; chr2:g.85553069C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553069C>G , CM000664.2:g.85553069C>G	GRCh38
NC_000002.11:g.85780192C>G , CM000664.1:g.85780192C>G	GRCh37
NC_000002.10:g.85633703C>G	NCBI36
NG_011811.2:g.13466G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5201G>C
ENST00000482662.2:n.3608G>C
ENST00000685865.1:n.1560G>C
ENST00000687250.1:n.1260G>C
ENST00000687995.1:n.1509G>C
ENST00000688205.1:c.*750G>C	ENSP00000509673.1:n.*750G>C
ENST00000688788.1:n.1396G>C
ENST00000689276.1:c.1088G>C	ENSP00000510012.1:p.Gly363Ala
ENST00000689576.1:c.1157G>C	ENSP00000508712.1:p.Gly386Ala
ENST00000690108.1:c.*813G>C	ENSP00000510617.1:n.*813G>C
ENST00000690468.1:c.878G>C	ENSP00000509078.1:p.Gly293Ala
ENST00000690595.1:c.482G>C	ENSP00000508979.1:p.Gly161Ala
ENST00000691348.1:c.986G>C	ENSP00000509369.1:p.Gly329Ala
ENST00000691410.1:c.*734G>C	ENSP00000508479.1:n.*734G>C
ENST00000693287.1:c.473G>C	ENSP00000510264.1:p.Gly158Ala
ENST00000693681.1:c.470G>C	ENSP00000510789.1:p.Gly157Ala
ENST00000233838.9:c.1157G>C MANE Select	ENSP00000233838.3:p.Gly386Ala
ENST00000233838.8:c.1157G>C	ENSP00000233838.3:p.Gly386Ala
ENST00000430215.7:c.986G>C	ENSP00000408045.3:p.Gly329Ala
ENST00000465637.5:n.179-5065G>C
ENST00000473665.1:n.650G>C
ENST00000482662.1:n.574G>C
NM_000821.5:c.1157G>C	NP_000812.2:p.Gly386Ala
NM_000821.6:c.1157G>C	NP_000812.2:p.Gly386Ala
NM_001142269.2:c.986G>C	NP_001135741.1:p.Gly329Ala
NM_001142269.3:c.986G>C	NP_001135741.1:p.Gly329Ala
XM_005264259.3:c.1157G>C	XP_005264316.1:p.Gly386Ala
XM_011532764.1:c.335G>C	XP_011531066.1:p.Gly112Ala
XM_011532765.1:c.335G>C	XP_011531067.1:p.Gly112Ala
XR_939677.1:n.1222G>C
XM_005264259.5:c.1157G>C	XP_005264316.1:p.Gly386Ala
XM_011532764.3:c.335G>C	XP_011531066.1:p.Gly112Ala
XM_011532765.3:c.335G>C	XP_011531067.1:p.Gly112Ala
XM_017003803.2:c.986G>C	XP_016859292.1:p.Gly329Ala
XR_001738703.2:n.1222G>C
NM_000821.7:c.1157G>C MANE Select	NP_000812.2:p.Gly386Ala
NM_001142269.4:c.986G>C	NP_001135741.1:p.Gly329Ala