Canonical Allele Identifier: CA427440066

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780385T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553262T>G , CM000664.2:g.85553262T>G	GRCh38
NC_000002.11:g.85780385T>G , CM000664.1:g.85780385T>G	GRCh37
NC_000002.10:g.85633896T>G	NCBI36
NG_011811.2:g.13273A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5169A>C
ENST00000482662.2:n.3576A>C
ENST00000685865.1:n.1528A>C
ENST00000687250.1:n.1228A>C
ENST00000687995.1:n.1477A>C
ENST00000688205.1:c.*718A>C	ENSP00000509673.1:n.*718A>C
ENST00000688788.1:n.1364A>C
ENST00000689276.1:c.1056A>C	ENSP00000510012.1:p.Leu352=
ENST00000689576.1:c.1125A>C	ENSP00000508712.1:p.Leu375=
ENST00000690108.1:c.*781A>C	ENSP00000510617.1:n.*781A>C
ENST00000690468.1:c.846A>C	ENSP00000509078.1:p.Leu282=
ENST00000690595.1:c.450A>C	ENSP00000508979.1:p.Leu150=
ENST00000691348.1:c.954A>C	ENSP00000509369.1:p.Leu318=
ENST00000691410.1:c.*702A>C	ENSP00000508479.1:n.*702A>C
ENST00000693287.1:c.441A>C	ENSP00000510264.1:p.Leu147=
ENST00000693681.1:c.438A>C	ENSP00000510789.1:p.Leu146=
ENST00000233838.9:c.1125A>C MANE Select	ENSP00000233838.3:p.Leu375=
ENST00000233838.8:c.1125A>C	ENSP00000233838.3:p.Leu375=
ENST00000430215.7:c.954A>C	ENSP00000408045.3:p.Leu318=
ENST00000465637.5:n.179-5258A>C
ENST00000473665.1:n.618A>C
ENST00000482662.1:n.542A>C
NM_000821.5:c.1125A>C	NP_000812.2:p.Leu375=
NM_000821.6:c.1125A>C	NP_000812.2:p.Leu375=
NM_001142269.2:c.954A>C	NP_001135741.1:p.Leu318=
NM_001142269.3:c.954A>C	NP_001135741.1:p.Leu318=
XM_005264259.3:c.1125A>C	XP_005264316.1:p.Leu375=
XM_011532764.1:c.303A>C	XP_011531066.1:p.Leu101=
XM_011532765.1:c.303A>C	XP_011531067.1:p.Leu101=
XR_939677.1:n.1190A>C
XM_005264259.5:c.1125A>C	XP_005264316.1:p.Leu375=
XM_011532764.3:c.303A>C	XP_011531066.1:p.Leu101=
XM_011532765.3:c.303A>C	XP_011531067.1:p.Leu101=
XM_017003803.2:c.954A>C	XP_016859292.1:p.Leu318=
XR_001738703.2:n.1190A>C
NM_000821.7:c.1125A>C MANE Select	NP_000812.2:p.Leu375=
NM_001142269.4:c.954A>C	NP_001135741.1:p.Leu318=