Canonical Allele Identifier: CA427440103

Gene: GGCX

Linked Data

• ClinVar Variation Id: 2802044
• ClinVar RCV Id: RCV003676468
• dbSNP Id: rs1462146725
• gnomAD v4: 2-85551921-G-A
• MyVariant Identifiers: chr2:g.85779044G>A (hg19) ; chr2:g.85551921G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551921G>A , CM000664.2:g.85551921G>A	GRCh38
NC_000002.11:g.85779044G>A , CM000664.1:g.85779044G>A	GRCh37
NC_000002.10:g.85632555G>A	NCBI36
NG_011811.2:g.14614C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5978C>T
ENST00000482662.2:n.4385C>T
ENST00000685865.1:n.2337C>T
ENST00000687250.1:n.2037C>T
ENST00000687995.1:n.1852C>T
ENST00000688205.1:c.*1093C>T	ENSP00000509673.1:n.*1093C>T
ENST00000688788.1:n.1739C>T
ENST00000689276.1:c.1431C>T	ENSP00000510012.1:p.Ser477=
ENST00000689576.1:c.*119C>T	ENSP00000508712.1:n.*119C>T
ENST00000690108.1:c.*1156C>T	ENSP00000510617.1:n.*1156C>T
ENST00000690468.1:c.*52C>T	ENSP00000509078.1:n.*52C>T
ENST00000690595.1:c.825C>T	ENSP00000508979.1:p.Ser275=
ENST00000691348.1:c.*52C>T	ENSP00000509369.1:n.*52C>T
ENST00000691410.1:c.*1077C>T	ENSP00000508479.1:n.*1077C>T
ENST00000693287.1:c.816C>T	ENSP00000510264.1:p.Ser272=
ENST00000693681.1:c.813C>T	ENSP00000510789.1:p.Ser271=
ENST00000233838.9:c.1500C>T MANE Select	ENSP00000233838.3:p.Ser500=
ENST00000233838.8:c.1500C>T	ENSP00000233838.3:p.Ser500=
ENST00000430215.7:c.1329C>T	ENSP00000408045.3:p.Ser443=
ENST00000465637.5:n.179-3917C>T
NM_000821.5:c.1500C>T	NP_000812.2:p.Ser500=
NM_000821.6:c.1500C>T	NP_000812.2:p.Ser500=
NM_001142269.2:c.1329C>T	NP_001135741.1:p.Ser443=
NM_001142269.3:c.1329C>T	NP_001135741.1:p.Ser443=
XM_005264259.3:c.1500C>T	XP_005264316.1:p.Ser500=
XM_011532764.1:c.678C>T	XP_011531066.1:p.Ser226=
XM_011532765.1:c.678C>T	XP_011531067.1:p.Ser226=
XR_939677.1:n.1413C>T
XM_005264259.5:c.1500C>T	XP_005264316.1:p.Ser500=
XM_011532764.3:c.678C>T	XP_011531066.1:p.Ser226=
XM_011532765.3:c.678C>T	XP_011531067.1:p.Ser226=
XM_017003803.2:c.1329C>T	XP_016859292.1:p.Ser443=
XR_001738703.2:n.1413C>T
NM_000821.7:c.1500C>T MANE Select	NP_000812.2:p.Ser500=
NM_001142269.4:c.1329C>T	NP_001135741.1:p.Ser443=