Canonical Allele Identifier: CA1741803

Gene: GGCX

Linked Data

• ClinVar Variation Id: 1940522
• ClinVar RCV Id: RCV002658444
• dbSNP Id: rs748459180
• ExAC: 2:85779080 G / A
• gnomAD v2: 2-85779080-G-A
• gnomAD v4: 2-85551957-G-A
• MyVariant Identifiers: chr2:g.85779080G>A (hg19) ; chr2:g.85551957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551957G>A , CM000664.2:g.85551957G>A	GRCh38
NC_000002.11:g.85779080G>A , CM000664.1:g.85779080G>A	GRCh37
NC_000002.10:g.85632591G>A	NCBI36
NG_011811.2:g.14578C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5942C>T
ENST00000482662.2:n.4349C>T
ENST00000685865.1:n.2301C>T
ENST00000687250.1:n.2001C>T
ENST00000687995.1:n.1816C>T
ENST00000688205.1:c.*1057C>T	ENSP00000509673.1:n.*1057C>T
ENST00000688788.1:n.1703C>T
ENST00000689276.1:c.1395C>T	ENSP00000510012.1:p.Ile465=
ENST00000689576.1:c.*83C>T	ENSP00000508712.1:n.*83C>T
ENST00000690108.1:c.*1120C>T	ENSP00000510617.1:n.*1120C>T
ENST00000690468.1:c.*16C>T	ENSP00000509078.1:n.*16C>T
ENST00000690595.1:c.789C>T	ENSP00000508979.1:p.Ile263=
ENST00000691348.1:c.*16C>T	ENSP00000509369.1:n.*16C>T
ENST00000691410.1:c.*1041C>T	ENSP00000508479.1:n.*1041C>T
ENST00000693287.1:c.780C>T	ENSP00000510264.1:p.Ile260=
ENST00000693681.1:c.777C>T	ENSP00000510789.1:p.Ile259=
ENST00000233838.9:c.1464C>T MANE Select	ENSP00000233838.3:p.Ile488=
ENST00000233838.8:c.1464C>T	ENSP00000233838.3:p.Ile488=
ENST00000430215.7:c.1293C>T	ENSP00000408045.3:p.Ile431=
ENST00000465637.5:n.179-3953C>T
NM_000821.5:c.1464C>T	NP_000812.2:p.Ile488=
NM_000821.6:c.1464C>T	NP_000812.2:p.Ile488=
NM_001142269.2:c.1293C>T	NP_001135741.1:p.Ile431=
NM_001142269.3:c.1293C>T	NP_001135741.1:p.Ile431=
XM_005264259.3:c.1464C>T	XP_005264316.1:p.Ile488=
XM_011532764.1:c.642C>T	XP_011531066.1:p.Ile214=
XM_011532765.1:c.642C>T	XP_011531067.1:p.Ile214=
XR_939677.1:n.1377C>T
XM_005264259.5:c.1464C>T	XP_005264316.1:p.Ile488=
XM_011532764.3:c.642C>T	XP_011531066.1:p.Ile214=
XM_011532765.3:c.642C>T	XP_011531067.1:p.Ile214=
XM_017003803.2:c.1293C>T	XP_016859292.1:p.Ile431=
XR_001738703.2:n.1377C>T
NM_000821.7:c.1464C>T MANE Select	NP_000812.2:p.Ile488=
NM_001142269.4:c.1293C>T	NP_001135741.1:p.Ile431=