Canonical Allele Identifier: CA427440071

Gene: GGCX

Linked Data

• gnomAD v4: 2-85551884-T-G
• MyVariant Identifiers: chr2:g.85779007T>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6015A>C
ENST00000482662.2:n.4422A>C
ENST00000685865.1:n.2374A>C
ENST00000687250.1:n.2074A>C
ENST00000687995.1:n.1889A>C
ENST00000688205.1:c.*1130A>C	ENSP00000509673.1:n.*1130A>C
ENST00000688788.1:n.1776A>C
ENST00000689276.1:c.1468A>C	ENSP00000510012.1:p.Arg490=
ENST00000689576.1:c.*156A>C	ENSP00000508712.1:n.*156A>C
ENST00000690108.1:c.*1193A>C	ENSP00000510617.1:n.*1193A>C
ENST00000690468.1:c.*89A>C	ENSP00000509078.1:n.*89A>C
ENST00000690595.1:c.862A>C	ENSP00000508979.1:p.Arg288=
ENST00000691348.1:c.*89A>C	ENSP00000509369.1:n.*89A>C
ENST00000691410.1:c.*1114A>C	ENSP00000508479.1:n.*1114A>C
ENST00000693287.1:c.853A>C	ENSP00000510264.1:p.Arg285=
ENST00000693681.1:c.850A>C	ENSP00000510789.1:p.Arg284=
ENST00000233838.9:c.1537A>C MANE Select	ENSP00000233838.3:p.Arg513=
ENST00000233838.8:c.1537A>C	ENSP00000233838.3:p.Arg513=
ENST00000430215.7:c.1366A>C	ENSP00000408045.3:p.Arg456=
ENST00000465637.5:n.179-3880A>C
NM_000821.5:c.1537A>C	NP_000812.2:p.Arg513=
NM_000821.6:c.1537A>C	NP_000812.2:p.Arg513=
NM_001142269.2:c.1366A>C	NP_001135741.1:p.Arg456=
NM_001142269.3:c.1366A>C	NP_001135741.1:p.Arg456=
XM_005264259.3:c.1537A>C	XP_005264316.1:p.Arg513=
XM_011532764.1:c.715A>C	XP_011531066.1:p.Arg239=
XM_011532765.1:c.715A>C	XP_011531067.1:p.Arg239=
XR_939677.1:n.1450A>C
XM_005264259.5:c.1537A>C	XP_005264316.1:p.Arg513=
XM_011532764.3:c.715A>C	XP_011531066.1:p.Arg239=
XM_011532765.3:c.715A>C	XP_011531067.1:p.Arg239=
XM_017003803.2:c.1366A>C	XP_016859292.1:p.Arg456=
XR_001738703.2:n.1450A>C
NM_000821.7:c.1537A>C MANE Select	NP_000812.2:p.Arg513=
NM_001142269.4:c.1366A>C	NP_001135741.1:p.Arg456=