Canonical Allele Identifier: CA347485013

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779069G>C (hg19) ; chr2:g.85551946G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551946G>C , CM000664.2:g.85551946G>C	GRCh38
NC_000002.11:g.85779069G>C , CM000664.1:g.85779069G>C	GRCh37
NC_000002.10:g.85632580G>C	NCBI36
NG_011811.2:g.14589C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5953C>G
ENST00000482662.2:n.4360C>G
ENST00000685865.1:n.2312C>G
ENST00000687250.1:n.2012C>G
ENST00000687995.1:n.1827C>G
ENST00000688205.1:c.*1068C>G	ENSP00000509673.1:n.*1068C>G
ENST00000688788.1:n.1714C>G
ENST00000689276.1:c.1406C>G	ENSP00000510012.1:p.Ala469Gly
ENST00000689576.1:c.*94C>G	ENSP00000508712.1:n.*94C>G
ENST00000690108.1:c.*1131C>G	ENSP00000510617.1:n.*1131C>G
ENST00000690468.1:c.*27C>G	ENSP00000509078.1:n.*27C>G
ENST00000690595.1:c.800C>G	ENSP00000508979.1:p.Ala267Gly
ENST00000691348.1:c.*27C>G	ENSP00000509369.1:n.*27C>G
ENST00000691410.1:c.*1052C>G	ENSP00000508479.1:n.*1052C>G
ENST00000693287.1:c.791C>G	ENSP00000510264.1:p.Ala264Gly
ENST00000693681.1:c.788C>G	ENSP00000510789.1:p.Ala263Gly
ENST00000233838.9:c.1475C>G MANE Select	ENSP00000233838.3:p.Ala492Gly
ENST00000233838.8:c.1475C>G	ENSP00000233838.3:p.Ala492Gly
ENST00000430215.7:c.1304C>G	ENSP00000408045.3:p.Ala435Gly
ENST00000465637.5:n.179-3942C>G
NM_000821.5:c.1475C>G	NP_000812.2:p.Ala492Gly
NM_000821.6:c.1475C>G	NP_000812.2:p.Ala492Gly
NM_001142269.2:c.1304C>G	NP_001135741.1:p.Ala435Gly
NM_001142269.3:c.1304C>G	NP_001135741.1:p.Ala435Gly
XM_005264259.3:c.1475C>G	XP_005264316.1:p.Ala492Gly
XM_011532764.1:c.653C>G	XP_011531066.1:p.Ala218Gly
XM_011532765.1:c.653C>G	XP_011531067.1:p.Ala218Gly
XR_939677.1:n.1388C>G
XM_005264259.5:c.1475C>G	XP_005264316.1:p.Ala492Gly
XM_011532764.3:c.653C>G	XP_011531066.1:p.Ala218Gly
XM_011532765.3:c.653C>G	XP_011531067.1:p.Ala218Gly
XM_017003803.2:c.1304C>G	XP_016859292.1:p.Ala435Gly
XR_001738703.2:n.1388C>G
NM_000821.7:c.1475C>G MANE Select	NP_000812.2:p.Ala492Gly
NM_001142269.4:c.1304C>G	NP_001135741.1:p.Ala435Gly