Canonical Allele Identifier: CA347485045

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779084T>G (hg19) ; chr2:g.85551961T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551961T>G , CM000664.2:g.85551961T>G	GRCh38
NC_000002.11:g.85779084T>G , CM000664.1:g.85779084T>G	GRCh37
NC_000002.10:g.85632595T>G	NCBI36
NG_011811.2:g.14574A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5938A>C
ENST00000482662.2:n.4345A>C
ENST00000685865.1:n.2297A>C
ENST00000687250.1:n.1997A>C
ENST00000687995.1:n.1812A>C
ENST00000688205.1:c.*1053A>C	ENSP00000509673.1:n.*1053A>C
ENST00000688788.1:n.1699A>C
ENST00000689276.1:c.1391A>C	ENSP00000510012.1:p.Asp464Ala
ENST00000689576.1:c.*79A>C	ENSP00000508712.1:n.*79A>C
ENST00000690108.1:c.*1116A>C	ENSP00000510617.1:n.*1116A>C
ENST00000690468.1:c.*12A>C	ENSP00000509078.1:n.*12A>C
ENST00000690595.1:c.785A>C	ENSP00000508979.1:p.Asp262Ala
ENST00000691348.1:c.*12A>C	ENSP00000509369.1:n.*12A>C
ENST00000691410.1:c.*1037A>C	ENSP00000508479.1:n.*1037A>C
ENST00000693287.1:c.776A>C	ENSP00000510264.1:p.Asp259Ala
ENST00000693681.1:c.773A>C	ENSP00000510789.1:p.Asp258Ala
ENST00000233838.9:c.1460A>C MANE Select	ENSP00000233838.3:p.Asp487Ala
ENST00000233838.8:c.1460A>C	ENSP00000233838.3:p.Asp487Ala
ENST00000430215.7:c.1289A>C	ENSP00000408045.3:p.Asp430Ala
ENST00000465637.5:n.179-3957A>C
NM_000821.5:c.1460A>C	NP_000812.2:p.Asp487Ala
NM_000821.6:c.1460A>C	NP_000812.2:p.Asp487Ala
NM_001142269.2:c.1289A>C	NP_001135741.1:p.Asp430Ala
NM_001142269.3:c.1289A>C	NP_001135741.1:p.Asp430Ala
XM_005264259.3:c.1460A>C	XP_005264316.1:p.Asp487Ala
XM_011532764.1:c.638A>C	XP_011531066.1:p.Asp213Ala
XM_011532765.1:c.638A>C	XP_011531067.1:p.Asp213Ala
XR_939677.1:n.1373A>C
XM_005264259.5:c.1460A>C	XP_005264316.1:p.Asp487Ala
XM_011532764.3:c.638A>C	XP_011531066.1:p.Asp213Ala
XM_011532765.3:c.638A>C	XP_011531067.1:p.Asp213Ala
XM_017003803.2:c.1289A>C	XP_016859292.1:p.Asp430Ala
XR_001738703.2:n.1373A>C
NM_000821.7:c.1460A>C MANE Select	NP_000812.2:p.Asp487Ala
NM_001142269.4:c.1289A>C	NP_001135741.1:p.Asp430Ala