Canonical Allele Identifier: CA347487178

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780181A>T (hg19) ; chr2:g.85553058A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553058A>T , CM000664.2:g.85553058A>T	GRCh38
NC_000002.11:g.85780181A>T , CM000664.1:g.85780181A>T	GRCh37
NC_000002.10:g.85633692A>T	NCBI36
NG_011811.2:g.13477T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5212T>A
ENST00000482662.2:n.3619T>A
ENST00000685865.1:n.1571T>A
ENST00000687250.1:n.1271T>A
ENST00000687995.1:n.1520T>A
ENST00000688205.1:c.*761T>A	ENSP00000509673.1:n.*761T>A
ENST00000688788.1:n.1407T>A
ENST00000689276.1:c.1099T>A	ENSP00000510012.1:p.Trp367Arg
ENST00000689576.1:c.1168T>A	ENSP00000508712.1:p.Trp390Arg
ENST00000690108.1:c.*824T>A	ENSP00000510617.1:n.*824T>A
ENST00000690468.1:c.889T>A	ENSP00000509078.1:p.Trp297Arg
ENST00000690595.1:c.493T>A	ENSP00000508979.1:p.Trp165Arg
ENST00000691348.1:c.997T>A	ENSP00000509369.1:p.Trp333Arg
ENST00000691410.1:c.*745T>A	ENSP00000508479.1:n.*745T>A
ENST00000693287.1:c.484T>A	ENSP00000510264.1:p.Trp162Arg
ENST00000693681.1:c.481T>A	ENSP00000510789.1:p.Trp161Arg
ENST00000233838.9:c.1168T>A MANE Select	ENSP00000233838.3:p.Trp390Arg
ENST00000233838.8:c.1168T>A	ENSP00000233838.3:p.Trp390Arg
ENST00000430215.7:c.997T>A	ENSP00000408045.3:p.Trp333Arg
ENST00000465637.5:n.179-5054T>A
ENST00000473665.1:n.661T>A
ENST00000482662.1:n.585T>A
NM_000821.5:c.1168T>A	NP_000812.2:p.Trp390Arg
NM_000821.6:c.1168T>A	NP_000812.2:p.Trp390Arg
NM_001142269.2:c.997T>A	NP_001135741.1:p.Trp333Arg
NM_001142269.3:c.997T>A	NP_001135741.1:p.Trp333Arg
XM_005264259.3:c.1168T>A	XP_005264316.1:p.Trp390Arg
XM_011532764.1:c.346T>A	XP_011531066.1:p.Trp116Arg
XM_011532765.1:c.346T>A	XP_011531067.1:p.Trp116Arg
XR_939677.1:n.1233T>A
XM_005264259.5:c.1168T>A	XP_005264316.1:p.Trp390Arg
XM_011532764.3:c.346T>A	XP_011531066.1:p.Trp116Arg
XM_011532765.3:c.346T>A	XP_011531067.1:p.Trp116Arg
XM_017003803.2:c.997T>A	XP_016859292.1:p.Trp333Arg
XR_001738703.2:n.1233T>A
NM_000821.7:c.1168T>A MANE Select	NP_000812.2:p.Trp390Arg
NM_001142269.4:c.997T>A	NP_001135741.1:p.Trp333Arg