Canonical Allele Identifier: CA347484880

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779007T>A (hg19) ; chr2:g.85551884T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551884T>A , CM000664.2:g.85551884T>A	GRCh38
NC_000002.11:g.85779007T>A , CM000664.1:g.85779007T>A	GRCh37
NC_000002.10:g.85632518T>A	NCBI36
NG_011811.2:g.14651A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6015A>T
ENST00000482662.2:n.4422A>T
ENST00000685865.1:n.2374A>T
ENST00000687250.1:n.2074A>T
ENST00000687995.1:n.1889A>T
ENST00000688205.1:c.*1130A>T	ENSP00000509673.1:n.*1130A>T
ENST00000688788.1:n.1776A>T
ENST00000689276.1:c.1468A>T	ENSP00000510012.1:p.Arg490Trp
ENST00000689576.1:c.*156A>T	ENSP00000508712.1:n.*156A>T
ENST00000690108.1:c.*1193A>T	ENSP00000510617.1:n.*1193A>T
ENST00000690468.1:c.*89A>T	ENSP00000509078.1:n.*89A>T
ENST00000690595.1:c.862A>T	ENSP00000508979.1:p.Arg288Trp
ENST00000691348.1:c.*89A>T	ENSP00000509369.1:n.*89A>T
ENST00000691410.1:c.*1114A>T	ENSP00000508479.1:n.*1114A>T
ENST00000693287.1:c.853A>T	ENSP00000510264.1:p.Arg285Trp
ENST00000693681.1:c.850A>T	ENSP00000510789.1:p.Arg284Trp
ENST00000233838.9:c.1537A>T MANE Select	ENSP00000233838.3:p.Arg513Trp
ENST00000233838.8:c.1537A>T	ENSP00000233838.3:p.Arg513Trp
ENST00000430215.7:c.1366A>T	ENSP00000408045.3:p.Arg456Trp
ENST00000465637.5:n.179-3880A>T
NM_000821.5:c.1537A>T	NP_000812.2:p.Arg513Trp
NM_000821.6:c.1537A>T	NP_000812.2:p.Arg513Trp
NM_001142269.2:c.1366A>T	NP_001135741.1:p.Arg456Trp
NM_001142269.3:c.1366A>T	NP_001135741.1:p.Arg456Trp
XM_005264259.3:c.1537A>T	XP_005264316.1:p.Arg513Trp
XM_011532764.1:c.715A>T	XP_011531066.1:p.Arg239Trp
XM_011532765.1:c.715A>T	XP_011531067.1:p.Arg239Trp
XR_939677.1:n.1450A>T
XM_005264259.5:c.1537A>T	XP_005264316.1:p.Arg513Trp
XM_011532764.3:c.715A>T	XP_011531066.1:p.Arg239Trp
XM_011532765.3:c.715A>T	XP_011531067.1:p.Arg239Trp
XM_017003803.2:c.1366A>T	XP_016859292.1:p.Arg456Trp
XR_001738703.2:n.1450A>T
NM_000821.7:c.1537A>T MANE Select	NP_000812.2:p.Arg513Trp
NM_001142269.4:c.1366A>T	NP_001135741.1:p.Arg456Trp