Canonical Allele Identifier: CA347484772

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85778960C>G (hg19) ; chr2:g.85551837C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551837C>G , CM000664.2:g.85551837C>G	GRCh38
NC_000002.11:g.85778960C>G , CM000664.1:g.85778960C>G	GRCh37
NC_000002.10:g.85632471C>G	NCBI36
NG_011811.2:g.14698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6062G>C
ENST00000482662.2:n.4469G>C
ENST00000685865.1:n.2421G>C
ENST00000687250.1:n.2121G>C
ENST00000687995.1:n.1936G>C
ENST00000688205.1:c.*1177G>C	ENSP00000509673.1:n.*1177G>C
ENST00000688788.1:n.1823G>C
ENST00000689276.1:c.1515G>C	ENSP00000510012.1:p.Glu505Asp
ENST00000689576.1:c.*203G>C	ENSP00000508712.1:n.*203G>C
ENST00000690108.1:c.*1240G>C	ENSP00000510617.1:n.*1240G>C
ENST00000690468.1:c.*136G>C	ENSP00000509078.1:n.*136G>C
ENST00000690595.1:c.909G>C	ENSP00000508979.1:p.Glu303Asp
ENST00000691348.1:c.*136G>C	ENSP00000509369.1:n.*136G>C
ENST00000691410.1:c.*1161G>C	ENSP00000508479.1:n.*1161G>C
ENST00000693287.1:c.900G>C	ENSP00000510264.1:p.Glu300Asp
ENST00000693681.1:c.897G>C	ENSP00000510789.1:p.Glu299Asp
ENST00000233838.9:c.1584G>C MANE Select	ENSP00000233838.3:p.Glu528Asp
ENST00000233838.8:c.1584G>C	ENSP00000233838.3:p.Glu528Asp
ENST00000430215.7:c.1413G>C	ENSP00000408045.3:p.Glu471Asp
ENST00000465637.5:n.179-3833G>C
NM_000821.5:c.1584G>C	NP_000812.2:p.Glu528Asp
NM_000821.6:c.1584G>C	NP_000812.2:p.Glu528Asp
NM_001142269.2:c.1413G>C	NP_001135741.1:p.Glu471Asp
NM_001142269.3:c.1413G>C	NP_001135741.1:p.Glu471Asp
XM_005264259.3:c.1584G>C	XP_005264316.1:p.Glu528Asp
XM_011532764.1:c.762G>C	XP_011531066.1:p.Glu254Asp
XM_011532765.1:c.762G>C	XP_011531067.1:p.Glu254Asp
XR_939677.1:n.1497G>C
XM_005264259.5:c.1584G>C	XP_005264316.1:p.Glu528Asp
XM_011532764.3:c.762G>C	XP_011531066.1:p.Glu254Asp
XM_011532765.3:c.762G>C	XP_011531067.1:p.Glu254Asp
XM_017003803.2:c.1413G>C	XP_016859292.1:p.Glu471Asp
XR_001738703.2:n.1497G>C
NM_000821.7:c.1584G>C MANE Select	NP_000812.2:p.Glu528Asp
NM_001142269.4:c.1413G>C	NP_001135741.1:p.Glu471Asp