Canonical Allele Identifier: CA1741899

Gene: GGCX

Linked Data

• dbSNP Id: rs761999595
• ExAC: 2:85780187 T / C
• gnomAD v2: 2-85780187-T-C
• gnomAD v4: 2-85553064-T-C
• MyVariant Identifiers: chr2:g.85780187T>C (hg19) ; chr2:g.85553064T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553064T>C , CM000664.2:g.85553064T>C	GRCh38
NC_000002.11:g.85780187T>C , CM000664.1:g.85780187T>C	GRCh37
NC_000002.10:g.85633698T>C	NCBI36
NG_011811.2:g.13471A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5206A>G
ENST00000482662.2:n.3613A>G
ENST00000685865.1:n.1565A>G
ENST00000687250.1:n.1265A>G
ENST00000687995.1:n.1514A>G
ENST00000688205.1:c.*755A>G	ENSP00000509673.1:n.*755A>G
ENST00000688788.1:n.1401A>G
ENST00000689276.1:c.1093A>G	ENSP00000510012.1:p.Asn365Asp
ENST00000689576.1:c.1162A>G	ENSP00000508712.1:p.Asn388Asp
ENST00000690108.1:c.*818A>G	ENSP00000510617.1:n.*818A>G
ENST00000690468.1:c.883A>G	ENSP00000509078.1:p.Asn295Asp
ENST00000690595.1:c.487A>G	ENSP00000508979.1:p.Asn163Asp
ENST00000691348.1:c.991A>G	ENSP00000509369.1:p.Asn331Asp
ENST00000691410.1:c.*739A>G	ENSP00000508479.1:n.*739A>G
ENST00000693287.1:c.478A>G	ENSP00000510264.1:p.Asn160Asp
ENST00000693681.1:c.475A>G	ENSP00000510789.1:p.Asn159Asp
ENST00000233838.9:c.1162A>G MANE Select	ENSP00000233838.3:p.Asn388Asp
ENST00000233838.8:c.1162A>G	ENSP00000233838.3:p.Asn388Asp
ENST00000430215.7:c.991A>G	ENSP00000408045.3:p.Asn331Asp
ENST00000465637.5:n.179-5060A>G
ENST00000473665.1:n.655A>G
ENST00000482662.1:n.579A>G
NM_000821.5:c.1162A>G	NP_000812.2:p.Asn388Asp
NM_000821.6:c.1162A>G	NP_000812.2:p.Asn388Asp
NM_001142269.2:c.991A>G	NP_001135741.1:p.Asn331Asp
NM_001142269.3:c.991A>G	NP_001135741.1:p.Asn331Asp
XM_005264259.3:c.1162A>G	XP_005264316.1:p.Asn388Asp
XM_011532764.1:c.340A>G	XP_011531066.1:p.Asn114Asp
XM_011532765.1:c.340A>G	XP_011531067.1:p.Asn114Asp
XR_939677.1:n.1227A>G
XM_005264259.5:c.1162A>G	XP_005264316.1:p.Asn388Asp
XM_011532764.3:c.340A>G	XP_011531066.1:p.Asn114Asp
XM_011532765.3:c.340A>G	XP_011531067.1:p.Asn114Asp
XM_017003803.2:c.991A>G	XP_016859292.1:p.Asn331Asp
XR_001738703.2:n.1227A>G
NM_000821.7:c.1162A>G MANE Select	NP_000812.2:p.Asn388Asp
NM_001142269.4:c.991A>G	NP_001135741.1:p.Asn331Asp