Canonical Allele Identifier: CA347485011

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779067A>G (hg19) ; chr2:g.85551944A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551944A>G , CM000664.2:g.85551944A>G	GRCh38
NC_000002.11:g.85779067A>G , CM000664.1:g.85779067A>G	GRCh37
NC_000002.10:g.85632578A>G	NCBI36
NG_011811.2:g.14591T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5955T>C
ENST00000482662.2:n.4362T>C
ENST00000685865.1:n.2314T>C
ENST00000687250.1:n.2014T>C
ENST00000687995.1:n.1829T>C
ENST00000688205.1:c.*1070T>C	ENSP00000509673.1:n.*1070T>C
ENST00000688788.1:n.1716T>C
ENST00000689276.1:c.1408T>C	ENSP00000510012.1:p.Trp470Arg
ENST00000689576.1:c.*96T>C	ENSP00000508712.1:n.*96T>C
ENST00000690108.1:c.*1133T>C	ENSP00000510617.1:n.*1133T>C
ENST00000690468.1:c.*29T>C	ENSP00000509078.1:n.*29T>C
ENST00000690595.1:c.802T>C	ENSP00000508979.1:p.Trp268Arg
ENST00000691348.1:c.*29T>C	ENSP00000509369.1:n.*29T>C
ENST00000691410.1:c.*1054T>C	ENSP00000508479.1:n.*1054T>C
ENST00000693287.1:c.793T>C	ENSP00000510264.1:p.Trp265Arg
ENST00000693681.1:c.790T>C	ENSP00000510789.1:p.Trp264Arg
ENST00000233838.9:c.1477T>C MANE Select	ENSP00000233838.3:p.Trp493Arg
ENST00000233838.8:c.1477T>C	ENSP00000233838.3:p.Trp493Arg
ENST00000430215.7:c.1306T>C	ENSP00000408045.3:p.Trp436Arg
ENST00000465637.5:n.179-3940T>C
NM_000821.5:c.1477T>C	NP_000812.2:p.Trp493Arg
NM_000821.6:c.1477T>C	NP_000812.2:p.Trp493Arg
NM_001142269.2:c.1306T>C	NP_001135741.1:p.Trp436Arg
NM_001142269.3:c.1306T>C	NP_001135741.1:p.Trp436Arg
XM_005264259.3:c.1477T>C	XP_005264316.1:p.Trp493Arg
XM_011532764.1:c.655T>C	XP_011531066.1:p.Trp219Arg
XM_011532765.1:c.655T>C	XP_011531067.1:p.Trp219Arg
XR_939677.1:n.1390T>C
XM_005264259.5:c.1477T>C	XP_005264316.1:p.Trp493Arg
XM_011532764.3:c.655T>C	XP_011531066.1:p.Trp219Arg
XM_011532765.3:c.655T>C	XP_011531067.1:p.Trp219Arg
XM_017003803.2:c.1306T>C	XP_016859292.1:p.Trp436Arg
XR_001738703.2:n.1390T>C
NM_000821.7:c.1477T>C MANE Select	NP_000812.2:p.Trp493Arg
NM_001142269.4:c.1306T>C	NP_001135741.1:p.Trp436Arg