Canonical Allele Identifier: CA1741796

Gene: GGCX

Linked Data

• ClinVar Variation Id: 337264
• ClinVar RCV Id: RCV000315423 ; RCV001861157
• dbSNP Id: rs372161185
• ExAC: 2:85779052 G / A
• gnomAD v2: 2-85779052-G-A
• gnomAD v3: 2-85551929-G-A
• gnomAD v4: 2-85551929-G-A
• MyVariant Identifiers: chr2:g.85779052G>A (hg19) ; chr2:g.85551929G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551929G>A , CM000664.2:g.85551929G>A	GRCh38
NC_000002.11:g.85779052G>A , CM000664.1:g.85779052G>A	GRCh37
NC_000002.10:g.85632563G>A	NCBI36
NG_011811.2:g.14606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5970C>T
ENST00000482662.2:n.4377C>T
ENST00000685865.1:n.2329C>T
ENST00000687250.1:n.2029C>T
ENST00000687995.1:n.1844C>T
ENST00000688205.1:c.*1085C>T	ENSP00000509673.1:n.*1085C>T
ENST00000688788.1:n.1731C>T
ENST00000689276.1:c.1423C>T	ENSP00000510012.1:p.Arg475Cys
ENST00000689576.1:c.*111C>T	ENSP00000508712.1:n.*111C>T
ENST00000690108.1:c.*1148C>T	ENSP00000510617.1:n.*1148C>T
ENST00000690468.1:c.*44C>T	ENSP00000509078.1:n.*44C>T
ENST00000690595.1:c.817C>T	ENSP00000508979.1:p.Arg273Cys
ENST00000691348.1:c.*44C>T	ENSP00000509369.1:n.*44C>T
ENST00000691410.1:c.*1069C>T	ENSP00000508479.1:n.*1069C>T
ENST00000693287.1:c.808C>T	ENSP00000510264.1:p.Arg270Cys
ENST00000693681.1:c.805C>T	ENSP00000510789.1:p.Arg269Cys
ENST00000233838.9:c.1492C>T MANE Select	ENSP00000233838.3:p.Arg498Cys
ENST00000233838.8:c.1492C>T	ENSP00000233838.3:p.Arg498Cys
ENST00000430215.7:c.1321C>T	ENSP00000408045.3:p.Arg441Cys
ENST00000465637.5:n.179-3925C>T
NM_000821.5:c.1492C>T	NP_000812.2:p.Arg498Cys
NM_000821.6:c.1492C>T	NP_000812.2:p.Arg498Cys
NM_001142269.2:c.1321C>T	NP_001135741.1:p.Arg441Cys
NM_001142269.3:c.1321C>T	NP_001135741.1:p.Arg441Cys
XM_005264259.3:c.1492C>T	XP_005264316.1:p.Arg498Cys
XM_011532764.1:c.670C>T	XP_011531066.1:p.Arg224Cys
XM_011532765.1:c.670C>T	XP_011531067.1:p.Arg224Cys
XR_939677.1:n.1405C>T
XM_005264259.5:c.1492C>T	XP_005264316.1:p.Arg498Cys
XM_011532764.3:c.670C>T	XP_011531066.1:p.Arg224Cys
XM_011532765.3:c.670C>T	XP_011531067.1:p.Arg224Cys
XM_017003803.2:c.1321C>T	XP_016859292.1:p.Arg441Cys
XR_001738703.2:n.1405C>T
NM_000821.7:c.1492C>T MANE Select	NP_000812.2:p.Arg498Cys
NM_001142269.4:c.1321C>T	NP_001135741.1:p.Arg441Cys