Canonical Allele Identifier: CA347484883

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779008C>A (hg19) ; chr2:g.85551885C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551885C>A , CM000664.2:g.85551885C>A	GRCh38
NC_000002.11:g.85779008C>A , CM000664.1:g.85779008C>A	GRCh37
NC_000002.10:g.85632519C>A	NCBI36
NG_011811.2:g.14650G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6014G>T
ENST00000482662.2:n.4421G>T
ENST00000685865.1:n.2373G>T
ENST00000687250.1:n.2073G>T
ENST00000687995.1:n.1888G>T
ENST00000688205.1:c.*1129G>T	ENSP00000509673.1:n.*1129G>T
ENST00000688788.1:n.1775G>T
ENST00000689276.1:c.1467G>T	ENSP00000510012.1:p.Trp489Cys
ENST00000689576.1:c.*155G>T	ENSP00000508712.1:n.*155G>T
ENST00000690108.1:c.*1192G>T	ENSP00000510617.1:n.*1192G>T
ENST00000690468.1:c.*88G>T	ENSP00000509078.1:n.*88G>T
ENST00000690595.1:c.861G>T	ENSP00000508979.1:p.Trp287Cys
ENST00000691348.1:c.*88G>T	ENSP00000509369.1:n.*88G>T
ENST00000691410.1:c.*1113G>T	ENSP00000508479.1:n.*1113G>T
ENST00000693287.1:c.852G>T	ENSP00000510264.1:p.Trp284Cys
ENST00000693681.1:c.849G>T	ENSP00000510789.1:p.Trp283Cys
ENST00000233838.9:c.1536G>T MANE Select	ENSP00000233838.3:p.Trp512Cys
ENST00000233838.8:c.1536G>T	ENSP00000233838.3:p.Trp512Cys
ENST00000430215.7:c.1365G>T	ENSP00000408045.3:p.Trp455Cys
ENST00000465637.5:n.179-3881G>T
NM_000821.5:c.1536G>T	NP_000812.2:p.Trp512Cys
NM_000821.6:c.1536G>T	NP_000812.2:p.Trp512Cys
NM_001142269.2:c.1365G>T	NP_001135741.1:p.Trp455Cys
NM_001142269.3:c.1365G>T	NP_001135741.1:p.Trp455Cys
XM_005264259.3:c.1536G>T	XP_005264316.1:p.Trp512Cys
XM_011532764.1:c.714G>T	XP_011531066.1:p.Trp238Cys
XM_011532765.1:c.714G>T	XP_011531067.1:p.Trp238Cys
XR_939677.1:n.1449G>T
XM_005264259.5:c.1536G>T	XP_005264316.1:p.Trp512Cys
XM_011532764.3:c.714G>T	XP_011531066.1:p.Trp238Cys
XM_011532765.3:c.714G>T	XP_011531067.1:p.Trp238Cys
XM_017003803.2:c.1365G>T	XP_016859292.1:p.Trp455Cys
XR_001738703.2:n.1449G>T
NM_000821.7:c.1536G>T MANE Select	NP_000812.2:p.Trp512Cys
NM_001142269.4:c.1365G>T	NP_001135741.1:p.Trp455Cys