Canonical Allele Identifier: CA1741801

Gene: GGCX

Linked Data

• ClinVar Variation Id: 2717268
• ClinVar RCV Id: RCV003548701
• dbSNP Id: rs554571935
• ExAC: 2:85779071 G / A
• gnomAD v2: 2-85779071-G-A
• gnomAD v3: 2-85551948-G-A
• gnomAD v4: 2-85551948-G-A
• COSMIC: COSM2822621
• MyVariant Identifiers: chr2:g.85779071G>A (hg19) ; chr2:g.85551948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551948G>A , CM000664.2:g.85551948G>A	GRCh38
NC_000002.11:g.85779071G>A , CM000664.1:g.85779071G>A	GRCh37
NC_000002.10:g.85632582G>A	NCBI36
NG_011811.2:g.14587C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5951C>T
ENST00000482662.2:n.4358C>T
ENST00000685865.1:n.2310C>T
ENST00000687250.1:n.2010C>T
ENST00000687995.1:n.1825C>T
ENST00000688205.1:c.*1066C>T	ENSP00000509673.1:n.*1066C>T
ENST00000688788.1:n.1712C>T
ENST00000689276.1:c.1404C>T	ENSP00000510012.1:p.Ala468=
ENST00000689576.1:c.*92C>T	ENSP00000508712.1:n.*92C>T
ENST00000690108.1:c.*1129C>T	ENSP00000510617.1:n.*1129C>T
ENST00000690468.1:c.*25C>T	ENSP00000509078.1:n.*25C>T
ENST00000690595.1:c.798C>T	ENSP00000508979.1:p.Ala266=
ENST00000691348.1:c.*25C>T	ENSP00000509369.1:n.*25C>T
ENST00000691410.1:c.*1050C>T	ENSP00000508479.1:n.*1050C>T
ENST00000693287.1:c.789C>T	ENSP00000510264.1:p.Ala263=
ENST00000693681.1:c.786C>T	ENSP00000510789.1:p.Ala262=
ENST00000233838.9:c.1473C>T MANE Select	ENSP00000233838.3:p.Ala491=
ENST00000233838.8:c.1473C>T	ENSP00000233838.3:p.Ala491=
ENST00000430215.7:c.1302C>T	ENSP00000408045.3:p.Ala434=
ENST00000465637.5:n.179-3944C>T
NM_000821.5:c.1473C>T	NP_000812.2:p.Ala491=
NM_000821.6:c.1473C>T	NP_000812.2:p.Ala491=
NM_001142269.2:c.1302C>T	NP_001135741.1:p.Ala434=
NM_001142269.3:c.1302C>T	NP_001135741.1:p.Ala434=
XM_005264259.3:c.1473C>T	XP_005264316.1:p.Ala491=
XM_011532764.1:c.651C>T	XP_011531066.1:p.Ala217=
XM_011532765.1:c.651C>T	XP_011531067.1:p.Ala217=
XR_939677.1:n.1386C>T
XM_005264259.5:c.1473C>T	XP_005264316.1:p.Ala491=
XM_011532764.3:c.651C>T	XP_011531066.1:p.Ala217=
XM_011532765.3:c.651C>T	XP_011531067.1:p.Ala217=
XM_017003803.2:c.1302C>T	XP_016859292.1:p.Ala434=
XR_001738703.2:n.1386C>T
NM_000821.7:c.1473C>T MANE Select	NP_000812.2:p.Ala491=
NM_001142269.4:c.1302C>T	NP_001135741.1:p.Ala434=