Canonical Allele Identifier: CA894039543

Gene: GGCX

Linked Data

• dbSNP Id: rs1297419897
• gnomAD v3: 2-85551919-C-CA
• gnomAD v4: 2-85551919-C-CA
• MyVariant Identifiers: chr2:g.85779042_85779043insA (hg19) ; chr2:g.85551919_85551920insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551920dup , CM000664.2:g.85551920dup	GRCh38
NC_000002.11:g.85779043dup , CM000664.1:g.85779043dup	GRCh37
NC_000002.10:g.85632554dup	NCBI36
NG_011811.2:g.14615dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5979dup
ENST00000482662.2:n.4386dup
ENST00000685865.1:n.2338dup
ENST00000687250.1:n.2038dup
ENST00000687995.1:n.1853dup
ENST00000688205.1:c.*1094dup	ENSP00000509673.1:n.*1094dup
ENST00000688788.1:n.1740dup
ENST00000689276.1:c.1432dup	ENSP00000510012.1:p.Trp478LeufsTer28
ENST00000689576.1:c.*120dup	ENSP00000508712.1:n.*120dup
ENST00000690108.1:c.*1157dup	ENSP00000510617.1:n.*1157dup
ENST00000690468.1:c.*53dup	ENSP00000509078.1:n.*53dup
ENST00000690595.1:c.826dup	ENSP00000508979.1:p.Trp276LeufsTer28
ENST00000691348.1:c.*53dup	ENSP00000509369.1:n.*53dup
ENST00000691410.1:c.*1078dup	ENSP00000508479.1:n.*1078dup
ENST00000693287.1:c.817dup	ENSP00000510264.1:p.Trp273LeufsTer28
ENST00000693681.1:c.814dup	ENSP00000510789.1:p.Trp272LeufsTer28
ENST00000233838.9:c.1501dup MANE Select	ENSP00000233838.3:p.Trp501LeufsTer28
ENST00000233838.8:c.1501dup	ENSP00000233838.3:p.Trp501LeufsTer28
ENST00000430215.7:c.1330dup	ENSP00000408045.3:p.Trp444LeufsTer28
ENST00000465637.5:n.179-3916dup
NM_000821.5:c.1501dup	NP_000812.2:p.Trp501LeufsTer28
NM_000821.6:c.1501dup	NP_000812.2:p.Trp501LeufsTer28
NM_001142269.2:c.1330dup	NP_001135741.1:p.Trp444LeufsTer28
NM_001142269.3:c.1330dup	NP_001135741.1:p.Trp444LeufsTer28
XM_005264259.3:c.1501dup	XP_005264316.1:p.Trp501LeufsTer28
XM_011532764.1:c.679dup	XP_011531066.1:p.Trp227LeufsTer28
XM_011532765.1:c.679dup	XP_011531067.1:p.Trp227LeufsTer28
XR_939677.1:n.1414dup
XM_005264259.5:c.1501dup	XP_005264316.1:p.Trp501LeufsTer28
XM_011532764.3:c.679dup	XP_011531066.1:p.Trp227LeufsTer28
XM_011532765.3:c.679dup	XP_011531067.1:p.Trp227LeufsTer28
XM_017003803.2:c.1330dup	XP_016859292.1:p.Trp444LeufsTer28
XR_001738703.2:n.1414dup
NM_000821.7:c.1501dup MANE Select	NP_000812.2:p.Trp501LeufsTer28
NM_001142269.4:c.1330dup	NP_001135741.1:p.Trp444LeufsTer28