Canonical Allele Identifier: CA347486948

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780126T>C (hg19) ; chr2:g.85553003T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553003T>C , CM000664.2:g.85553003T>C	GRCh38
NC_000002.11:g.85780126T>C , CM000664.1:g.85780126T>C	GRCh37
NC_000002.10:g.85633637T>C	NCBI36
NG_011811.2:g.13532A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5267A>G
ENST00000482662.2:n.3674A>G
ENST00000685865.1:n.1626A>G
ENST00000687250.1:n.1326A>G
ENST00000687995.1:n.1575A>G
ENST00000688205.1:c.*816A>G	ENSP00000509673.1:n.*816A>G
ENST00000688788.1:n.1462A>G
ENST00000689276.1:c.1154A>G	ENSP00000510012.1:p.His385Arg
ENST00000689576.1:c.1223A>G	ENSP00000508712.1:p.His408Arg
ENST00000690108.1:c.*879A>G	ENSP00000510617.1:n.*879A>G
ENST00000690468.1:c.944A>G	ENSP00000509078.1:p.His315Arg
ENST00000690595.1:c.548A>G	ENSP00000508979.1:p.His183Arg
ENST00000691348.1:c.1052A>G	ENSP00000509369.1:p.His351Arg
ENST00000691410.1:c.*800A>G	ENSP00000508479.1:n.*800A>G
ENST00000693287.1:c.539A>G	ENSP00000510264.1:p.His180Arg
ENST00000693681.1:c.536A>G	ENSP00000510789.1:p.His179Arg
ENST00000233838.9:c.1223A>G MANE Select	ENSP00000233838.3:p.His408Arg
ENST00000233838.8:c.1223A>G	ENSP00000233838.3:p.His408Arg
ENST00000430215.7:c.1052A>G	ENSP00000408045.3:p.His351Arg
ENST00000465637.5:n.179-4999A>G
ENST00000473665.1:n.716A>G
ENST00000482662.1:n.640A>G
NM_000821.5:c.1223A>G	NP_000812.2:p.His408Arg
NM_000821.6:c.1223A>G	NP_000812.2:p.His408Arg
NM_001142269.2:c.1052A>G	NP_001135741.1:p.His351Arg
NM_001142269.3:c.1052A>G	NP_001135741.1:p.His351Arg
XM_005264259.3:c.1223A>G	XP_005264316.1:p.His408Arg
XM_011532764.1:c.401A>G	XP_011531066.1:p.His134Arg
XM_011532765.1:c.401A>G	XP_011531067.1:p.His134Arg
XR_939677.1:n.1288A>G
XM_005264259.5:c.1223A>G	XP_005264316.1:p.His408Arg
XM_011532764.3:c.401A>G	XP_011531066.1:p.His134Arg
XM_011532765.3:c.401A>G	XP_011531067.1:p.His134Arg
XM_017003803.2:c.1052A>G	XP_016859292.1:p.His351Arg
XR_001738703.2:n.1288A>G
NM_000821.7:c.1223A>G MANE Select	NP_000812.2:p.His408Arg
NM_001142269.4:c.1052A>G	NP_001135741.1:p.His351Arg