Canonical Allele Identifier: CA1742169

Gene: GGCX

Linked Data

• ClinVar Variation Id: 2184350
• ClinVar RCV Id: RCV002600079
• dbSNP Id: rs748802047
• ExAC: 2:85786091 G / A
• gnomAD v2: 2-85786091-G-A
• gnomAD v3: 2-85558968-G-A
• gnomAD v4: 2-85558968-G-A
• COSMIC: COSM2822645
• MyVariant Identifiers: chr2:g.85786091G>A (hg19) ; chr2:g.85558968G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85558968G>A , CM000664.2:g.85558968G>A	GRCh38
NC_000002.11:g.85786091G>A , CM000664.1:g.85786091G>A	GRCh37
NC_000002.10:g.85639602G>A	NCBI36
NG_011811.2:g.7567C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.108C>T
ENST00000482662.2:n.389C>T
ENST00000496962.2:c.322C>T	ENSP00000508856.1:p.Arg108Cys
ENST00000685865.1:n.414C>T
ENST00000687250.1:n.425C>T
ENST00000687995.1:n.363C>T
ENST00000688205.1:c.322C>T	ENSP00000509673.1:p.Arg108Cys
ENST00000688788.1:n.414C>T
ENST00000689276.1:c.322C>T	ENSP00000510012.1:p.Arg108Cys
ENST00000689576.1:c.322C>T	ENSP00000508712.1:p.Arg108Cys
ENST00000690108.1:c.322C>T	ENSP00000510617.1:p.Arg108Cys
ENST00000690468.1:c.151C>T	ENSP00000509078.1:p.Arg51Cys
ENST00000690595.1:c.214+1847C>T	ENSP00000508979.1:n.214+1847C>T
ENST00000691348.1:c.151C>T	ENSP00000509369.1:p.Arg51Cys
ENST00000691410.1:c.322C>T	ENSP00000508479.1:p.Arg108Cys
ENST00000693287.1:c.-67+2418C>T	ENSP00000510264.1:n.-67+2418C>T
ENST00000693681.1:c.151C>T	ENSP00000510789.1:p.Arg51Cys
ENST00000233838.9:c.322C>T MANE Select	ENSP00000233838.3:p.Arg108Cys
ENST00000233838.8:c.322C>T	ENSP00000233838.3:p.Arg108Cys
ENST00000421496.5:c.151C>T	ENSP00000400384.1:p.Arg51Cys
ENST00000423570.5:c.322C>T	ENSP00000389426.1:p.Arg108Cys
ENST00000428479.3:c.151C>T	ENSP00000390748.3:p.Arg51Cys
ENST00000430215.7:c.151C>T	ENSP00000408045.3:p.Arg51Cys
ENST00000465637.5:n.178+38C>T
ENST00000481541.1:n.216C>T
ENST00000496962.1:n.441C>T
NM_000821.5:c.322C>T	NP_000812.2:p.Arg108Cys
NM_000821.6:c.322C>T	NP_000812.2:p.Arg108Cys
NM_001142269.2:c.151C>T	NP_001135741.1:p.Arg51Cys
NM_001142269.3:c.151C>T	NP_001135741.1:p.Arg51Cys
NM_001311312.1:c.322C>T	NP_001298241.1:p.Arg108Cys
XM_005264259.3:c.322C>T	XP_005264316.1:p.Arg108Cys
XM_011532764.1:c.-337C>T	XP_011531066.1:n.-337C>T
XM_011532765.1:c.-337C>T	XP_011531067.1:n.-337C>T
XR_939677.1:n.387C>T
XM_005264259.5:c.322C>T	XP_005264316.1:p.Arg108Cys
XM_011532764.3:c.-337C>T	XP_011531066.1:n.-337C>T
XM_011532765.3:c.-337C>T	XP_011531067.1:n.-337C>T
XM_017003803.2:c.151C>T	XP_016859292.1:p.Arg51Cys
XR_001738703.2:n.387C>T
NM_000821.7:c.322C>T MANE Select	NP_000812.2:p.Arg108Cys
NM_001142269.4:c.151C>T	NP_001135741.1:p.Arg51Cys
NM_001311312.2:c.322C>T	NP_001298241.1:p.Arg108Cys