Canonical Allele Identifier: CA347486999

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780139G>T (hg19) ; chr2:g.85553016G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553016G>T , CM000664.2:g.85553016G>T	GRCh38
NC_000002.11:g.85780139G>T , CM000664.1:g.85780139G>T	GRCh37
NC_000002.10:g.85633650G>T	NCBI36
NG_011811.2:g.13519C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5254C>A
ENST00000482662.2:n.3661C>A
ENST00000685865.1:n.1613C>A
ENST00000687250.1:n.1313C>A
ENST00000687995.1:n.1562C>A
ENST00000688205.1:c.*803C>A	ENSP00000509673.1:n.*803C>A
ENST00000688788.1:n.1449C>A
ENST00000689276.1:c.1141C>A	ENSP00000510012.1:p.His381Asn
ENST00000689576.1:c.1210C>A	ENSP00000508712.1:p.His404Asn
ENST00000690108.1:c.*866C>A	ENSP00000510617.1:n.*866C>A
ENST00000690468.1:c.931C>A	ENSP00000509078.1:p.His311Asn
ENST00000690595.1:c.535C>A	ENSP00000508979.1:p.His179Asn
ENST00000691348.1:c.1039C>A	ENSP00000509369.1:p.His347Asn
ENST00000691410.1:c.*787C>A	ENSP00000508479.1:n.*787C>A
ENST00000693287.1:c.526C>A	ENSP00000510264.1:p.His176Asn
ENST00000693681.1:c.523C>A	ENSP00000510789.1:p.His175Asn
ENST00000233838.9:c.1210C>A MANE Select	ENSP00000233838.3:p.His404Asn
ENST00000233838.8:c.1210C>A	ENSP00000233838.3:p.His404Asn
ENST00000430215.7:c.1039C>A	ENSP00000408045.3:p.His347Asn
ENST00000465637.5:n.179-5012C>A
ENST00000473665.1:n.703C>A
ENST00000482662.1:n.627C>A
NM_000821.5:c.1210C>A	NP_000812.2:p.His404Asn
NM_000821.6:c.1210C>A	NP_000812.2:p.His404Asn
NM_001142269.2:c.1039C>A	NP_001135741.1:p.His347Asn
NM_001142269.3:c.1039C>A	NP_001135741.1:p.His347Asn
XM_005264259.3:c.1210C>A	XP_005264316.1:p.His404Asn
XM_011532764.1:c.388C>A	XP_011531066.1:p.His130Asn
XM_011532765.1:c.388C>A	XP_011531067.1:p.His130Asn
XR_939677.1:n.1275C>A
XM_005264259.5:c.1210C>A	XP_005264316.1:p.His404Asn
XM_011532764.3:c.388C>A	XP_011531066.1:p.His130Asn
XM_011532765.3:c.388C>A	XP_011531067.1:p.His130Asn
XM_017003803.2:c.1039C>A	XP_016859292.1:p.His347Asn
XR_001738703.2:n.1275C>A
NM_000821.7:c.1210C>A MANE Select	NP_000812.2:p.His404Asn
NM_001142269.4:c.1039C>A	NP_001135741.1:p.His347Asn