Canonical Allele Identifier: CA347487196

Gene: GGCX

Linked Data

• dbSNP Id: rs146560494
• gnomAD v4: 2-85553062-G-T
• MyVariant Identifiers: chr2:g.85780185G>T (hg19) ; chr2:g.85553062G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553062G>T , CM000664.2:g.85553062G>T	GRCh38
NC_000002.11:g.85780185G>T , CM000664.1:g.85780185G>T	GRCh37
NC_000002.10:g.85633696G>T	NCBI36
NG_011811.2:g.13473C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5208C>A
ENST00000482662.2:n.3615C>A
ENST00000685865.1:n.1567C>A
ENST00000687250.1:n.1267C>A
ENST00000687995.1:n.1516C>A
ENST00000688205.1:c.*757C>A	ENSP00000509673.1:n.*757C>A
ENST00000688788.1:n.1403C>A
ENST00000689276.1:c.1095C>A	ENSP00000510012.1:p.Asn365Lys
ENST00000689576.1:c.1164C>A	ENSP00000508712.1:p.Asn388Lys
ENST00000690108.1:c.*820C>A	ENSP00000510617.1:n.*820C>A
ENST00000690468.1:c.885C>A	ENSP00000509078.1:p.Asn295Lys
ENST00000690595.1:c.489C>A	ENSP00000508979.1:p.Asn163Lys
ENST00000691348.1:c.993C>A	ENSP00000509369.1:p.Asn331Lys
ENST00000691410.1:c.*741C>A	ENSP00000508479.1:n.*741C>A
ENST00000693287.1:c.480C>A	ENSP00000510264.1:p.Asn160Lys
ENST00000693681.1:c.477C>A	ENSP00000510789.1:p.Asn159Lys
ENST00000233838.9:c.1164C>A MANE Select	ENSP00000233838.3:p.Asn388Lys
ENST00000233838.8:c.1164C>A	ENSP00000233838.3:p.Asn388Lys
ENST00000430215.7:c.993C>A	ENSP00000408045.3:p.Asn331Lys
ENST00000465637.5:n.179-5058C>A
ENST00000473665.1:n.657C>A
ENST00000482662.1:n.581C>A
NM_000821.5:c.1164C>A	NP_000812.2:p.Asn388Lys
NM_000821.6:c.1164C>A	NP_000812.2:p.Asn388Lys
NM_001142269.2:c.993C>A	NP_001135741.1:p.Asn331Lys
NM_001142269.3:c.993C>A	NP_001135741.1:p.Asn331Lys
XM_005264259.3:c.1164C>A	XP_005264316.1:p.Asn388Lys
XM_011532764.1:c.342C>A	XP_011531066.1:p.Asn114Lys
XM_011532765.1:c.342C>A	XP_011531067.1:p.Asn114Lys
XR_939677.1:n.1229C>A
XM_005264259.5:c.1164C>A	XP_005264316.1:p.Asn388Lys
XM_011532764.3:c.342C>A	XP_011531066.1:p.Asn114Lys
XM_011532765.3:c.342C>A	XP_011531067.1:p.Asn114Lys
XM_017003803.2:c.993C>A	XP_016859292.1:p.Asn331Lys
XR_001738703.2:n.1229C>A
NM_000821.7:c.1164C>A MANE Select	NP_000812.2:p.Asn388Lys
NM_001142269.4:c.993C>A	NP_001135741.1:p.Asn331Lys