Canonical Allele Identifier: CA1741804

Gene: GGCX

Linked Data

• dbSNP Id: rs121909676
• ExAC: 2:85779090 C / T
• gnomAD v2: 2-85779090-C-T
• gnomAD v3: 2-85551967-C-T
• gnomAD v4: 2-85551967-C-T
• COSMIC: COSM6039985
• MyVariant Identifiers: chr2:g.85779090C>T (hg19) ; chr2:g.85551967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551967C>T , CM000664.2:g.85551967C>T	GRCh38
NC_000002.11:g.85779090C>T , CM000664.1:g.85779090C>T	GRCh37
NC_000002.10:g.85632601C>T	NCBI36
NG_011811.2:g.14568G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5932G>A
ENST00000482662.2:n.4339G>A
ENST00000685865.1:n.2291G>A
ENST00000687250.1:n.1991G>A
ENST00000687995.1:n.1806G>A
ENST00000688205.1:c.*1047G>A	ENSP00000509673.1:n.*1047G>A
ENST00000688788.1:n.1693G>A
ENST00000689276.1:c.1385G>A	ENSP00000510012.1:p.Arg462His
ENST00000689576.1:c.*73G>A	ENSP00000508712.1:n.*73G>A
ENST00000690108.1:c.*1110G>A	ENSP00000510617.1:n.*1110G>A
ENST00000690468.1:c.*6G>A	ENSP00000509078.1:n.*6G>A
ENST00000690595.1:c.779G>A	ENSP00000508979.1:p.Arg260His
ENST00000691348.1:c.*6G>A	ENSP00000509369.1:n.*6G>A
ENST00000691410.1:c.*1031G>A	ENSP00000508479.1:n.*1031G>A
ENST00000693287.1:c.770G>A	ENSP00000510264.1:p.Arg257His
ENST00000693681.1:c.767G>A	ENSP00000510789.1:p.Arg256His
ENST00000233838.9:c.1454G>A MANE Select	ENSP00000233838.3:p.Arg485His
ENST00000233838.8:c.1454G>A	ENSP00000233838.3:p.Arg485His
ENST00000430215.7:c.1283G>A	ENSP00000408045.3:p.Arg428His
ENST00000465637.5:n.179-3963G>A
NM_000821.5:c.1454G>A	NP_000812.2:p.Arg485His
NM_000821.6:c.1454G>A	NP_000812.2:p.Arg485His
NM_001142269.2:c.1283G>A	NP_001135741.1:p.Arg428His
NM_001142269.3:c.1283G>A	NP_001135741.1:p.Arg428His
XM_005264259.3:c.1454G>A	XP_005264316.1:p.Arg485His
XM_011532764.1:c.632G>A	XP_011531066.1:p.Arg211His
XM_011532765.1:c.632G>A	XP_011531067.1:p.Arg211His
XR_939677.1:n.1367G>A
XM_005264259.5:c.1454G>A	XP_005264316.1:p.Arg485His
XM_011532764.3:c.632G>A	XP_011531066.1:p.Arg211His
XM_011532765.3:c.632G>A	XP_011531067.1:p.Arg211His
XM_017003803.2:c.1283G>A	XP_016859292.1:p.Arg428His
XR_001738703.2:n.1367G>A
NM_000821.7:c.1454G>A MANE Select	NP_000812.2:p.Arg485His
NM_001142269.4:c.1283G>A	NP_001135741.1:p.Arg428His