Canonical Allele Identifier: CA347485048

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779085C>A (hg19) ; chr2:g.85551962C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551962C>A , CM000664.2:g.85551962C>A	GRCh38
NC_000002.11:g.85779085C>A , CM000664.1:g.85779085C>A	GRCh37
NC_000002.10:g.85632596C>A	NCBI36
NG_011811.2:g.14573G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5937G>T
ENST00000482662.2:n.4344G>T
ENST00000685865.1:n.2296G>T
ENST00000687250.1:n.1996G>T
ENST00000687995.1:n.1811G>T
ENST00000688205.1:c.*1052G>T	ENSP00000509673.1:n.*1052G>T
ENST00000688788.1:n.1698G>T
ENST00000689276.1:c.1390G>T	ENSP00000510012.1:p.Asp464Tyr
ENST00000689576.1:c.*78G>T	ENSP00000508712.1:n.*78G>T
ENST00000690108.1:c.*1115G>T	ENSP00000510617.1:n.*1115G>T
ENST00000690468.1:c.*11G>T	ENSP00000509078.1:n.*11G>T
ENST00000690595.1:c.784G>T	ENSP00000508979.1:p.Asp262Tyr
ENST00000691348.1:c.*11G>T	ENSP00000509369.1:n.*11G>T
ENST00000691410.1:c.*1036G>T	ENSP00000508479.1:n.*1036G>T
ENST00000693287.1:c.775G>T	ENSP00000510264.1:p.Asp259Tyr
ENST00000693681.1:c.772G>T	ENSP00000510789.1:p.Asp258Tyr
ENST00000233838.9:c.1459G>T MANE Select	ENSP00000233838.3:p.Asp487Tyr
ENST00000233838.8:c.1459G>T	ENSP00000233838.3:p.Asp487Tyr
ENST00000430215.7:c.1288G>T	ENSP00000408045.3:p.Asp430Tyr
ENST00000465637.5:n.179-3958G>T
NM_000821.5:c.1459G>T	NP_000812.2:p.Asp487Tyr
NM_000821.6:c.1459G>T	NP_000812.2:p.Asp487Tyr
NM_001142269.2:c.1288G>T	NP_001135741.1:p.Asp430Tyr
NM_001142269.3:c.1288G>T	NP_001135741.1:p.Asp430Tyr
XM_005264259.3:c.1459G>T	XP_005264316.1:p.Asp487Tyr
XM_011532764.1:c.637G>T	XP_011531066.1:p.Asp213Tyr
XM_011532765.1:c.637G>T	XP_011531067.1:p.Asp213Tyr
XR_939677.1:n.1372G>T
XM_005264259.5:c.1459G>T	XP_005264316.1:p.Asp487Tyr
XM_011532764.3:c.637G>T	XP_011531066.1:p.Asp213Tyr
XM_011532765.3:c.637G>T	XP_011531067.1:p.Asp213Tyr
XM_017003803.2:c.1288G>T	XP_016859292.1:p.Asp430Tyr
XR_001738703.2:n.1372G>T
NM_000821.7:c.1459G>T MANE Select	NP_000812.2:p.Asp487Tyr
NM_001142269.4:c.1288G>T	NP_001135741.1:p.Asp430Tyr