Canonical Allele Identifier: CA347484741

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85778946G>T (hg19) ; chr2:g.85551823G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551823G>T , CM000664.2:g.85551823G>T	GRCh38
NC_000002.11:g.85778946G>T , CM000664.1:g.85778946G>T	GRCh37
NC_000002.10:g.85632457G>T	NCBI36
NG_011811.2:g.14712C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6076C>A
ENST00000482662.2:n.4483C>A
ENST00000685865.1:n.2435C>A
ENST00000687250.1:n.2135C>A
ENST00000687995.1:n.1950C>A
ENST00000688205.1:c.*1191C>A	ENSP00000509673.1:n.*1191C>A
ENST00000688788.1:n.1837C>A
ENST00000689276.1:c.1529C>A	ENSP00000510012.1:p.Ala510Glu
ENST00000689576.1:c.*217C>A	ENSP00000508712.1:n.*217C>A
ENST00000690108.1:c.*1254C>A	ENSP00000510617.1:n.*1254C>A
ENST00000690468.1:c.*150C>A	ENSP00000509078.1:n.*150C>A
ENST00000690595.1:c.923C>A	ENSP00000508979.1:p.Ala308Glu
ENST00000691348.1:c.*150C>A	ENSP00000509369.1:n.*150C>A
ENST00000691410.1:c.*1175C>A	ENSP00000508479.1:n.*1175C>A
ENST00000693287.1:c.914C>A	ENSP00000510264.1:p.Ala305Glu
ENST00000693681.1:c.911C>A	ENSP00000510789.1:p.Ala304Glu
ENST00000233838.9:c.1598C>A MANE Select	ENSP00000233838.3:p.Ala533Glu
ENST00000233838.8:c.1598C>A	ENSP00000233838.3:p.Ala533Glu
ENST00000430215.7:c.1427C>A	ENSP00000408045.3:p.Ala476Glu
ENST00000465637.5:n.179-3819C>A
NM_000821.5:c.1598C>A	NP_000812.2:p.Ala533Glu
NM_000821.6:c.1598C>A	NP_000812.2:p.Ala533Glu
NM_001142269.2:c.1427C>A	NP_001135741.1:p.Ala476Glu
NM_001142269.3:c.1427C>A	NP_001135741.1:p.Ala476Glu
XM_005264259.3:c.1598C>A	XP_005264316.1:p.Ala533Glu
XM_011532764.1:c.776C>A	XP_011531066.1:p.Ala259Glu
XM_011532765.1:c.776C>A	XP_011531067.1:p.Ala259Glu
XR_939677.1:n.1511C>A
XM_005264259.5:c.1598C>A	XP_005264316.1:p.Ala533Glu
XM_011532764.3:c.776C>A	XP_011531066.1:p.Ala259Glu
XM_011532765.3:c.776C>A	XP_011531067.1:p.Ala259Glu
XM_017003803.2:c.1427C>A	XP_016859292.1:p.Ala476Glu
XR_001738703.2:n.1511C>A
NM_000821.7:c.1598C>A MANE Select	NP_000812.2:p.Ala533Glu
NM_001142269.4:c.1427C>A	NP_001135741.1:p.Ala476Glu