Canonical Allele Identifier: CA347484980

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779053C>G (hg19) ; chr2:g.85551930C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5969G>C
ENST00000482662.2:n.4376G>C
ENST00000685865.1:n.2328G>C
ENST00000687250.1:n.2028G>C
ENST00000687995.1:n.1843G>C
ENST00000688205.1:c.*1084G>C	ENSP00000509673.1:n.*1084G>C
ENST00000688788.1:n.1730G>C
ENST00000689276.1:c.1422G>C	ENSP00000510012.1:p.Gln474His
ENST00000689576.1:c.*110G>C	ENSP00000508712.1:n.*110G>C
ENST00000690108.1:c.*1147G>C	ENSP00000510617.1:n.*1147G>C
ENST00000690468.1:c.*43G>C	ENSP00000509078.1:n.*43G>C
ENST00000690595.1:c.816G>C	ENSP00000508979.1:p.Gln272His
ENST00000691348.1:c.*43G>C	ENSP00000509369.1:n.*43G>C
ENST00000691410.1:c.*1068G>C	ENSP00000508479.1:n.*1068G>C
ENST00000693287.1:c.807G>C	ENSP00000510264.1:p.Gln269His
ENST00000693681.1:c.804G>C	ENSP00000510789.1:p.Gln268His
ENST00000233838.9:c.1491G>C MANE Select	ENSP00000233838.3:p.Gln497His
ENST00000233838.8:c.1491G>C	ENSP00000233838.3:p.Gln497His
ENST00000430215.7:c.1320G>C	ENSP00000408045.3:p.Gln440His
ENST00000465637.5:n.179-3926G>C
NM_000821.5:c.1491G>C	NP_000812.2:p.Gln497His
NM_000821.6:c.1491G>C	NP_000812.2:p.Gln497His
NM_001142269.2:c.1320G>C	NP_001135741.1:p.Gln440His
NM_001142269.3:c.1320G>C	NP_001135741.1:p.Gln440His
XM_005264259.3:c.1491G>C	XP_005264316.1:p.Gln497His
XM_011532764.1:c.669G>C	XP_011531066.1:p.Gln223His
XM_011532765.1:c.669G>C	XP_011531067.1:p.Gln223His
XR_939677.1:n.1404G>C
XM_005264259.5:c.1491G>C	XP_005264316.1:p.Gln497His
XM_011532764.3:c.669G>C	XP_011531066.1:p.Gln223His
XM_011532765.3:c.669G>C	XP_011531067.1:p.Gln223His
XM_017003803.2:c.1320G>C	XP_016859292.1:p.Gln440His
XR_001738703.2:n.1404G>C
NM_000821.7:c.1491G>C MANE Select	NP_000812.2:p.Gln497His
NM_001142269.4:c.1320G>C	NP_001135741.1:p.Gln440His