Canonical Allele Identifier: CA214957

Gene: GGCX

Linked Data

• ClinVar Variation Id: 16206
• ClinVar RCV Id: RCV000017590 ; RCV001824572 ; RCV001851893
• dbSNP Id: rs121909683
• ExAC: 2:85781392 C / T
• gnomAD v2: 2-85781392-C-T
• gnomAD v3: 2-85554269-C-T
• gnomAD v4: 2-85554269-C-T
• MyVariant Identifiers: chr2:g.85781392C>T (hg19) ; chr2:g.85554269C>T (hg38)
• PubMed: PMID:18800149

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85554269C>T , CM000664.2:g.85554269C>T	GRCh38
NC_000002.11:g.85781392C>T , CM000664.1:g.85781392C>T	GRCh37
NC_000002.10:g.85634903C>T	NCBI36
NG_011811.2:g.12266G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.4807G>A
ENST00000482662.2:n.2569G>A
ENST00000685865.1:n.1166G>A
ENST00000687250.1:n.866G>A
ENST00000687995.1:n.1115G>A
ENST00000688205.1:c.*356G>A	ENSP00000509673.1:n.*356G>A
ENST00000688788.1:n.1129-772G>A
ENST00000689276.1:c.694G>A	ENSP00000510012.1:p.Val232Met
ENST00000689576.1:c.763G>A	ENSP00000508712.1:p.Val255Met
ENST00000690108.1:c.*419G>A	ENSP00000510617.1:n.*419G>A
ENST00000690468.1:c.484G>A	ENSP00000509078.1:p.Val162Met
ENST00000690595.1:c.215-772G>A	ENSP00000508979.1:n.215-772G>A
ENST00000691348.1:c.592G>A	ENSP00000509369.1:p.Val198Met
ENST00000691410.1:c.*340G>A	ENSP00000508479.1:n.*340G>A
ENST00000693287.1:c.79G>A	ENSP00000510264.1:p.Val27Met
ENST00000693681.1:c.203-772G>A	ENSP00000510789.1:n.203-772G>A
ENST00000233838.9:c.763G>A MANE Select	ENSP00000233838.3:p.Val255Met
ENST00000233838.8:c.763G>A	ENSP00000233838.3:p.Val255Met
ENST00000430215.7:c.592G>A	ENSP00000408045.3:p.Val198Met
ENST00000465637.5:n.178+4737G>A
ENST00000473665.1:n.256G>A
NM_000821.5:c.763G>A	NP_000812.2:p.Val255Met
NM_000821.6:c.763G>A	NP_000812.2:p.Val255Met
NM_001142269.2:c.592G>A	NP_001135741.1:p.Val198Met
NM_001142269.3:c.592G>A	NP_001135741.1:p.Val198Met
XM_005264259.3:c.763G>A	XP_005264316.1:p.Val255Met
XM_011532764.1:c.68-772G>A	XP_011531066.1:n.68-772G>A
XM_011532765.1:c.68-772G>A	XP_011531067.1:n.68-772G>A
XR_939677.1:n.828G>A
XM_005264259.5:c.763G>A	XP_005264316.1:p.Val255Met
XM_011532764.3:c.68-772G>A	XP_011531066.1:n.68-772G>A
XM_011532765.3:c.68-772G>A	XP_011531067.1:n.68-772G>A
XM_017003803.2:c.592G>A	XP_016859292.1:p.Val198Met
XR_001738703.2:n.828G>A
NM_000821.7:c.763G>A MANE Select	NP_000812.2:p.Val255Met
NM_001142269.4:c.592G>A	NP_001135741.1:p.Val198Met