Canonical Allele Identifier: CA1741892

Gene: GGCX

Linked Data

• ClinVar Variation Id: 1929955
• ClinVar RCV Id: RCV002618794
• dbSNP Id: rs746786420
• ExAC: 2:85780133 G / A
• gnomAD v3: 2-85553010-G-A
• gnomAD v4: 2-85553010-G-A
• MyVariant Identifiers: chr2:g.85780133G>A (hg19) ; chr2:g.85553010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553010G>A , CM000664.2:g.85553010G>A	GRCh38
NC_000002.11:g.85780133G>A , CM000664.1:g.85780133G>A	GRCh37
NC_000002.10:g.85633644G>A	NCBI36
NG_011811.2:g.13525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5260C>T
ENST00000482662.2:n.3667C>T
ENST00000685865.1:n.1619C>T
ENST00000687250.1:n.1319C>T
ENST00000687995.1:n.1568C>T
ENST00000688205.1:c.*809C>T	ENSP00000509673.1:n.*809C>T
ENST00000688788.1:n.1455C>T
ENST00000689276.1:c.1147C>T	ENSP00000510012.1:p.Arg383Cys
ENST00000689576.1:c.1216C>T	ENSP00000508712.1:p.Arg406Cys
ENST00000690108.1:c.*872C>T	ENSP00000510617.1:n.*872C>T
ENST00000690468.1:c.937C>T	ENSP00000509078.1:p.Arg313Cys
ENST00000690595.1:c.541C>T	ENSP00000508979.1:p.Arg181Cys
ENST00000691348.1:c.1045C>T	ENSP00000509369.1:p.Arg349Cys
ENST00000691410.1:c.*793C>T	ENSP00000508479.1:n.*793C>T
ENST00000693287.1:c.532C>T	ENSP00000510264.1:p.Arg178Cys
ENST00000693681.1:c.529C>T	ENSP00000510789.1:p.Arg177Cys
ENST00000233838.9:c.1216C>T MANE Select	ENSP00000233838.3:p.Arg406Cys
ENST00000233838.8:c.1216C>T	ENSP00000233838.3:p.Arg406Cys
ENST00000430215.7:c.1045C>T	ENSP00000408045.3:p.Arg349Cys
ENST00000465637.5:n.179-5006C>T
ENST00000473665.1:n.709C>T
ENST00000482662.1:n.633C>T
NM_000821.5:c.1216C>T	NP_000812.2:p.Arg406Cys
NM_000821.6:c.1216C>T	NP_000812.2:p.Arg406Cys
NM_001142269.2:c.1045C>T	NP_001135741.1:p.Arg349Cys
NM_001142269.3:c.1045C>T	NP_001135741.1:p.Arg349Cys
XM_005264259.3:c.1216C>T	XP_005264316.1:p.Arg406Cys
XM_011532764.1:c.394C>T	XP_011531066.1:p.Arg132Cys
XM_011532765.1:c.394C>T	XP_011531067.1:p.Arg132Cys
XR_939677.1:n.1281C>T
XM_005264259.5:c.1216C>T	XP_005264316.1:p.Arg406Cys
XM_011532764.3:c.394C>T	XP_011531066.1:p.Arg132Cys
XM_011532765.3:c.394C>T	XP_011531067.1:p.Arg132Cys
XM_017003803.2:c.1045C>T	XP_016859292.1:p.Arg349Cys
XR_001738703.2:n.1281C>T
NM_000821.7:c.1216C>T MANE Select	NP_000812.2:p.Arg406Cys
NM_001142269.4:c.1045C>T	NP_001135741.1:p.Arg349Cys