Canonical Allele Identifier: CA347487016

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780144A>C (hg19) ; chr2:g.85553021A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553021A>C , CM000664.2:g.85553021A>C	GRCh38
NC_000002.11:g.85780144A>C , CM000664.1:g.85780144A>C	GRCh37
NC_000002.10:g.85633655A>C	NCBI36
NG_011811.2:g.13514T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5249T>G
ENST00000482662.2:n.3656T>G
ENST00000685865.1:n.1608T>G
ENST00000687250.1:n.1308T>G
ENST00000687995.1:n.1557T>G
ENST00000688205.1:c.*798T>G	ENSP00000509673.1:n.*798T>G
ENST00000688788.1:n.1444T>G
ENST00000689276.1:c.1136T>G	ENSP00000510012.1:p.Met379Arg
ENST00000689576.1:c.1205T>G	ENSP00000508712.1:p.Met402Arg
ENST00000690108.1:c.*861T>G	ENSP00000510617.1:n.*861T>G
ENST00000690468.1:c.926T>G	ENSP00000509078.1:p.Met309Arg
ENST00000690595.1:c.530T>G	ENSP00000508979.1:p.Met177Arg
ENST00000691348.1:c.1034T>G	ENSP00000509369.1:p.Met345Arg
ENST00000691410.1:c.*782T>G	ENSP00000508479.1:n.*782T>G
ENST00000693287.1:c.521T>G	ENSP00000510264.1:p.Met174Arg
ENST00000693681.1:c.518T>G	ENSP00000510789.1:p.Met173Arg
ENST00000233838.9:c.1205T>G MANE Select	ENSP00000233838.3:p.Met402Arg
ENST00000233838.8:c.1205T>G	ENSP00000233838.3:p.Met402Arg
ENST00000430215.7:c.1034T>G	ENSP00000408045.3:p.Met345Arg
ENST00000465637.5:n.179-5017T>G
ENST00000473665.1:n.698T>G
ENST00000482662.1:n.622T>G
NM_000821.5:c.1205T>G	NP_000812.2:p.Met402Arg
NM_000821.6:c.1205T>G	NP_000812.2:p.Met402Arg
NM_001142269.2:c.1034T>G	NP_001135741.1:p.Met345Arg
NM_001142269.3:c.1034T>G	NP_001135741.1:p.Met345Arg
XM_005264259.3:c.1205T>G	XP_005264316.1:p.Met402Arg
XM_011532764.1:c.383T>G	XP_011531066.1:p.Met128Arg
XM_011532765.1:c.383T>G	XP_011531067.1:p.Met128Arg
XR_939677.1:n.1270T>G
XM_005264259.5:c.1205T>G	XP_005264316.1:p.Met402Arg
XM_011532764.3:c.383T>G	XP_011531066.1:p.Met128Arg
XM_011532765.3:c.383T>G	XP_011531067.1:p.Met128Arg
XM_017003803.2:c.1034T>G	XP_016859292.1:p.Met345Arg
XR_001738703.2:n.1270T>G
NM_000821.7:c.1205T>G MANE Select	NP_000812.2:p.Met402Arg
NM_001142269.4:c.1034T>G	NP_001135741.1:p.Met345Arg