Canonical Allele Identifier: CA347486966

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780130A>T (hg19) ; chr2:g.85553007A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553007A>T , CM000664.2:g.85553007A>T	GRCh38
NC_000002.11:g.85780130A>T , CM000664.1:g.85780130A>T	GRCh37
NC_000002.10:g.85633641A>T	NCBI36
NG_011811.2:g.13528T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5263T>A
ENST00000482662.2:n.3670T>A
ENST00000685865.1:n.1622T>A
ENST00000687250.1:n.1322T>A
ENST00000687995.1:n.1571T>A
ENST00000688205.1:c.*812T>A	ENSP00000509673.1:n.*812T>A
ENST00000688788.1:n.1458T>A
ENST00000689276.1:c.1150T>A	ENSP00000510012.1:p.Ser384Thr
ENST00000689576.1:c.1219T>A	ENSP00000508712.1:p.Ser407Thr
ENST00000690108.1:c.*875T>A	ENSP00000510617.1:n.*875T>A
ENST00000690468.1:c.940T>A	ENSP00000509078.1:p.Ser314Thr
ENST00000690595.1:c.544T>A	ENSP00000508979.1:p.Ser182Thr
ENST00000691348.1:c.1048T>A	ENSP00000509369.1:p.Ser350Thr
ENST00000691410.1:c.*796T>A	ENSP00000508479.1:n.*796T>A
ENST00000693287.1:c.535T>A	ENSP00000510264.1:p.Ser179Thr
ENST00000693681.1:c.532T>A	ENSP00000510789.1:p.Ser178Thr
ENST00000233838.9:c.1219T>A MANE Select	ENSP00000233838.3:p.Ser407Thr
ENST00000233838.8:c.1219T>A	ENSP00000233838.3:p.Ser407Thr
ENST00000430215.7:c.1048T>A	ENSP00000408045.3:p.Ser350Thr
ENST00000465637.5:n.179-5003T>A
ENST00000473665.1:n.712T>A
ENST00000482662.1:n.636T>A
NM_000821.5:c.1219T>A	NP_000812.2:p.Ser407Thr
NM_000821.6:c.1219T>A	NP_000812.2:p.Ser407Thr
NM_001142269.2:c.1048T>A	NP_001135741.1:p.Ser350Thr
NM_001142269.3:c.1048T>A	NP_001135741.1:p.Ser350Thr
XM_005264259.3:c.1219T>A	XP_005264316.1:p.Ser407Thr
XM_011532764.1:c.397T>A	XP_011531066.1:p.Ser133Thr
XM_011532765.1:c.397T>A	XP_011531067.1:p.Ser133Thr
XR_939677.1:n.1284T>A
XM_005264259.5:c.1219T>A	XP_005264316.1:p.Ser407Thr
XM_011532764.3:c.397T>A	XP_011531066.1:p.Ser133Thr
XM_011532765.3:c.397T>A	XP_011531067.1:p.Ser133Thr
XM_017003803.2:c.1048T>A	XP_016859292.1:p.Ser350Thr
XR_001738703.2:n.1284T>A
NM_000821.7:c.1219T>A MANE Select	NP_000812.2:p.Ser407Thr
NM_001142269.4:c.1048T>A	NP_001135741.1:p.Ser350Thr