Canonical Allele Identifier: CA347488074

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780515G>C (hg19) ; chr2:g.85553392G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553392G>C , CM000664.2:g.85553392G>C	GRCh38
NC_000002.11:g.85780515G>C , CM000664.1:g.85780515G>C	GRCh37
NC_000002.10:g.85634026G>C	NCBI36
NG_011811.2:g.13143C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5039C>G
ENST00000482662.2:n.3446C>G
ENST00000685865.1:n.1398C>G
ENST00000687250.1:n.1098C>G
ENST00000687995.1:n.1347C>G
ENST00000688205.1:c.*588C>G	ENSP00000509673.1:n.*588C>G
ENST00000688788.1:n.1234C>G
ENST00000689276.1:c.926C>G	ENSP00000510012.1:p.Pro309Arg
ENST00000689576.1:c.995C>G	ENSP00000508712.1:p.Pro332Arg
ENST00000690108.1:c.*651C>G	ENSP00000510617.1:n.*651C>G
ENST00000690468.1:c.716C>G	ENSP00000509078.1:p.Pro239Arg
ENST00000690595.1:c.320C>G	ENSP00000508979.1:p.Pro107Arg
ENST00000691348.1:c.824C>G	ENSP00000509369.1:p.Pro275Arg
ENST00000691410.1:c.*572C>G	ENSP00000508479.1:n.*572C>G
ENST00000693287.1:c.311C>G	ENSP00000510264.1:p.Pro104Arg
ENST00000693681.1:c.308C>G	ENSP00000510789.1:p.Pro103Arg
ENST00000233838.9:c.995C>G MANE Select	ENSP00000233838.3:p.Pro332Arg
ENST00000233838.8:c.995C>G	ENSP00000233838.3:p.Pro332Arg
ENST00000430215.7:c.824C>G	ENSP00000408045.3:p.Pro275Arg
ENST00000465637.5:n.179-5388C>G
ENST00000473665.1:n.488C>G
ENST00000482662.1:n.412C>G
NM_000821.5:c.995C>G	NP_000812.2:p.Pro332Arg
NM_000821.6:c.995C>G	NP_000812.2:p.Pro332Arg
NM_001142269.2:c.824C>G	NP_001135741.1:p.Pro275Arg
NM_001142269.3:c.824C>G	NP_001135741.1:p.Pro275Arg
XM_005264259.3:c.995C>G	XP_005264316.1:p.Pro332Arg
XM_011532764.1:c.173C>G	XP_011531066.1:p.Pro58Arg
XM_011532765.1:c.173C>G	XP_011531067.1:p.Pro58Arg
XR_939677.1:n.1060C>G
XM_005264259.5:c.995C>G	XP_005264316.1:p.Pro332Arg
XM_011532764.3:c.173C>G	XP_011531066.1:p.Pro58Arg
XM_011532765.3:c.173C>G	XP_011531067.1:p.Pro58Arg
XM_017003803.2:c.824C>G	XP_016859292.1:p.Pro275Arg
XR_001738703.2:n.1060C>G
NM_000821.7:c.995C>G MANE Select	NP_000812.2:p.Pro332Arg
NM_001142269.4:c.824C>G	NP_001135741.1:p.Pro275Arg