Canonical Allele Identifier: CA347484841

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85778989T>C (hg19) ; chr2:g.85551866T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551866T>C , CM000664.2:g.85551866T>C	GRCh38
NC_000002.11:g.85778989T>C , CM000664.1:g.85778989T>C	GRCh37
NC_000002.10:g.85632500T>C	NCBI36
NG_011811.2:g.14669A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6033A>G
ENST00000482662.2:n.4440A>G
ENST00000685865.1:n.2392A>G
ENST00000687250.1:n.2092A>G
ENST00000687995.1:n.1907A>G
ENST00000688205.1:c.*1148A>G	ENSP00000509673.1:n.*1148A>G
ENST00000688788.1:n.1794A>G
ENST00000689276.1:c.1486A>G	ENSP00000510012.1:p.Ile496Val
ENST00000689576.1:c.*174A>G	ENSP00000508712.1:n.*174A>G
ENST00000690108.1:c.*1211A>G	ENSP00000510617.1:n.*1211A>G
ENST00000690468.1:c.*107A>G	ENSP00000509078.1:n.*107A>G
ENST00000690595.1:c.880A>G	ENSP00000508979.1:p.Ile294Val
ENST00000691348.1:c.*107A>G	ENSP00000509369.1:n.*107A>G
ENST00000691410.1:c.*1132A>G	ENSP00000508479.1:n.*1132A>G
ENST00000693287.1:c.871A>G	ENSP00000510264.1:p.Ile291Val
ENST00000693681.1:c.868A>G	ENSP00000510789.1:p.Ile290Val
ENST00000233838.9:c.1555A>G MANE Select	ENSP00000233838.3:p.Ile519Val
ENST00000233838.8:c.1555A>G	ENSP00000233838.3:p.Ile519Val
ENST00000430215.7:c.1384A>G	ENSP00000408045.3:p.Ile462Val
ENST00000465637.5:n.179-3862A>G
NM_000821.5:c.1555A>G	NP_000812.2:p.Ile519Val
NM_000821.6:c.1555A>G	NP_000812.2:p.Ile519Val
NM_001142269.2:c.1384A>G	NP_001135741.1:p.Ile462Val
NM_001142269.3:c.1384A>G	NP_001135741.1:p.Ile462Val
XM_005264259.3:c.1555A>G	XP_005264316.1:p.Ile519Val
XM_011532764.1:c.733A>G	XP_011531066.1:p.Ile245Val
XM_011532765.1:c.733A>G	XP_011531067.1:p.Ile245Val
XR_939677.1:n.1468A>G
XM_005264259.5:c.1555A>G	XP_005264316.1:p.Ile519Val
XM_011532764.3:c.733A>G	XP_011531066.1:p.Ile245Val
XM_011532765.3:c.733A>G	XP_011531067.1:p.Ile245Val
XM_017003803.2:c.1384A>G	XP_016859292.1:p.Ile462Val
XR_001738703.2:n.1468A>G
NM_000821.7:c.1555A>G MANE Select	NP_000812.2:p.Ile519Val
NM_001142269.4:c.1384A>G	NP_001135741.1:p.Ile462Val