Canonical Allele Identifier: CA427440111

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779053C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551930C>T , CM000664.2:g.85551930C>T	GRCh38
NC_000002.11:g.85779053C>T , CM000664.1:g.85779053C>T	GRCh37
NC_000002.10:g.85632564C>T	NCBI36
NG_011811.2:g.14605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5969G>A
ENST00000482662.2:n.4376G>A
ENST00000685865.1:n.2328G>A
ENST00000687250.1:n.2028G>A
ENST00000687995.1:n.1843G>A
ENST00000688205.1:c.*1084G>A	ENSP00000509673.1:n.*1084G>A
ENST00000688788.1:n.1730G>A
ENST00000689276.1:c.1422G>A	ENSP00000510012.1:p.Gln474=
ENST00000689576.1:c.*110G>A	ENSP00000508712.1:n.*110G>A
ENST00000690108.1:c.*1147G>A	ENSP00000510617.1:n.*1147G>A
ENST00000690468.1:c.*43G>A	ENSP00000509078.1:n.*43G>A
ENST00000690595.1:c.816G>A	ENSP00000508979.1:p.Gln272=
ENST00000691348.1:c.*43G>A	ENSP00000509369.1:n.*43G>A
ENST00000691410.1:c.*1068G>A	ENSP00000508479.1:n.*1068G>A
ENST00000693287.1:c.807G>A	ENSP00000510264.1:p.Gln269=
ENST00000693681.1:c.804G>A	ENSP00000510789.1:p.Gln268=
ENST00000233838.9:c.1491G>A MANE Select	ENSP00000233838.3:p.Gln497=
ENST00000233838.8:c.1491G>A	ENSP00000233838.3:p.Gln497=
ENST00000430215.7:c.1320G>A	ENSP00000408045.3:p.Gln440=
ENST00000465637.5:n.179-3926G>A
NM_000821.5:c.1491G>A	NP_000812.2:p.Gln497=
NM_000821.6:c.1491G>A	NP_000812.2:p.Gln497=
NM_001142269.2:c.1320G>A	NP_001135741.1:p.Gln440=
NM_001142269.3:c.1320G>A	NP_001135741.1:p.Gln440=
XM_005264259.3:c.1491G>A	XP_005264316.1:p.Gln497=
XM_011532764.1:c.669G>A	XP_011531066.1:p.Gln223=
XM_011532765.1:c.669G>A	XP_011531067.1:p.Gln223=
XR_939677.1:n.1404G>A
XM_005264259.5:c.1491G>A	XP_005264316.1:p.Gln497=
XM_011532764.3:c.669G>A	XP_011531066.1:p.Gln223=
XM_011532765.3:c.669G>A	XP_011531067.1:p.Gln223=
XM_017003803.2:c.1320G>A	XP_016859292.1:p.Gln440=
XR_001738703.2:n.1404G>A
NM_000821.7:c.1491G>A MANE Select	NP_000812.2:p.Gln497=
NM_001142269.4:c.1320G>A	NP_001135741.1:p.Gln440=