Canonical Allele Identifier: CA347487325

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780368T>C (hg19) ; chr2:g.85553245T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553245T>C , CM000664.2:g.85553245T>C	GRCh38
NC_000002.11:g.85780368T>C , CM000664.1:g.85780368T>C	GRCh37
NC_000002.10:g.85633879T>C	NCBI36
NG_011811.2:g.13290A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5186A>G
ENST00000482662.2:n.3593A>G
ENST00000685865.1:n.1545A>G
ENST00000687250.1:n.1245A>G
ENST00000687995.1:n.1494A>G
ENST00000688205.1:c.*735A>G	ENSP00000509673.1:n.*735A>G
ENST00000688788.1:n.1381A>G
ENST00000689276.1:c.1073A>G	ENSP00000510012.1:p.His358Arg
ENST00000689576.1:c.1142A>G	ENSP00000508712.1:p.His381Arg
ENST00000690108.1:c.*798A>G	ENSP00000510617.1:n.*798A>G
ENST00000690468.1:c.863A>G	ENSP00000509078.1:p.His288Arg
ENST00000690595.1:c.467A>G	ENSP00000508979.1:p.His156Arg
ENST00000691348.1:c.971A>G	ENSP00000509369.1:p.His324Arg
ENST00000691410.1:c.*719A>G	ENSP00000508479.1:n.*719A>G
ENST00000693287.1:c.458A>G	ENSP00000510264.1:p.His153Arg
ENST00000693681.1:c.455A>G	ENSP00000510789.1:p.His152Arg
ENST00000233838.9:c.1142A>G MANE Select	ENSP00000233838.3:p.His381Arg
ENST00000233838.8:c.1142A>G	ENSP00000233838.3:p.His381Arg
ENST00000430215.7:c.971A>G	ENSP00000408045.3:p.His324Arg
ENST00000465637.5:n.179-5241A>G
ENST00000473665.1:n.635A>G
ENST00000482662.1:n.559A>G
NM_000821.5:c.1142A>G	NP_000812.2:p.His381Arg
NM_000821.6:c.1142A>G	NP_000812.2:p.His381Arg
NM_001142269.2:c.971A>G	NP_001135741.1:p.His324Arg
NM_001142269.3:c.971A>G	NP_001135741.1:p.His324Arg
XM_005264259.3:c.1142A>G	XP_005264316.1:p.His381Arg
XM_011532764.1:c.320A>G	XP_011531066.1:p.His107Arg
XM_011532765.1:c.320A>G	XP_011531067.1:p.His107Arg
XR_939677.1:n.1207A>G
XM_005264259.5:c.1142A>G	XP_005264316.1:p.His381Arg
XM_011532764.3:c.320A>G	XP_011531066.1:p.His107Arg
XM_011532765.3:c.320A>G	XP_011531067.1:p.His107Arg
XM_017003803.2:c.971A>G	XP_016859292.1:p.His324Arg
XR_001738703.2:n.1207A>G
NM_000821.7:c.1142A>G MANE Select	NP_000812.2:p.His381Arg
NM_001142269.4:c.971A>G	NP_001135741.1:p.His324Arg