Canonical Allele Identifier: CA347487149

Gene: GGCX

Linked Data

• gnomAD v4: 2-85553052-T-C
• MyVariant Identifiers: chr2:g.85780175T>C (hg19) ; chr2:g.85553052T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553052T>C , CM000664.2:g.85553052T>C	GRCh38
NC_000002.11:g.85780175T>C , CM000664.1:g.85780175T>C	GRCh37
NC_000002.10:g.85633686T>C	NCBI36
NG_011811.2:g.13483A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5218A>G
ENST00000482662.2:n.3625A>G
ENST00000685865.1:n.1577A>G
ENST00000687250.1:n.1277A>G
ENST00000687995.1:n.1526A>G
ENST00000688205.1:c.*767A>G	ENSP00000509673.1:n.*767A>G
ENST00000688788.1:n.1413A>G
ENST00000689276.1:c.1105A>G	ENSP00000510012.1:p.Asn369Asp
ENST00000689576.1:c.1174A>G	ENSP00000508712.1:p.Asn392Asp
ENST00000690108.1:c.*830A>G	ENSP00000510617.1:n.*830A>G
ENST00000690468.1:c.895A>G	ENSP00000509078.1:p.Asn299Asp
ENST00000690595.1:c.499A>G	ENSP00000508979.1:p.Asn167Asp
ENST00000691348.1:c.1003A>G	ENSP00000509369.1:p.Asn335Asp
ENST00000691410.1:c.*751A>G	ENSP00000508479.1:n.*751A>G
ENST00000693287.1:c.490A>G	ENSP00000510264.1:p.Asn164Asp
ENST00000693681.1:c.487A>G	ENSP00000510789.1:p.Asn163Asp
ENST00000233838.9:c.1174A>G MANE Select	ENSP00000233838.3:p.Asn392Asp
ENST00000233838.8:c.1174A>G	ENSP00000233838.3:p.Asn392Asp
ENST00000430215.7:c.1003A>G	ENSP00000408045.3:p.Asn335Asp
ENST00000465637.5:n.179-5048A>G
ENST00000473665.1:n.667A>G
ENST00000482662.1:n.591A>G
NM_000821.5:c.1174A>G	NP_000812.2:p.Asn392Asp
NM_000821.6:c.1174A>G	NP_000812.2:p.Asn392Asp
NM_001142269.2:c.1003A>G	NP_001135741.1:p.Asn335Asp
NM_001142269.3:c.1003A>G	NP_001135741.1:p.Asn335Asp
XM_005264259.3:c.1174A>G	XP_005264316.1:p.Asn392Asp
XM_011532764.1:c.352A>G	XP_011531066.1:p.Asn118Asp
XM_011532765.1:c.352A>G	XP_011531067.1:p.Asn118Asp
XR_939677.1:n.1239A>G
XM_005264259.5:c.1174A>G	XP_005264316.1:p.Asn392Asp
XM_011532764.3:c.352A>G	XP_011531066.1:p.Asn118Asp
XM_011532765.3:c.352A>G	XP_011531067.1:p.Asn118Asp
XM_017003803.2:c.1003A>G	XP_016859292.1:p.Asn335Asp
XR_001738703.2:n.1239A>G
NM_000821.7:c.1174A>G MANE Select	NP_000812.2:p.Asn392Asp
NM_001142269.4:c.1003A>G	NP_001135741.1:p.Asn335Asp