Canonical Allele Identifier: CA126264

Gene: GGCX

Linked Data

• ClinVar Variation Id: 16197
• ClinVar RCV Id: RCV000017581 ; RCV003556035
• dbSNP Id: rs121909676
• gnomAD v2: 2-85779090-C-G
• gnomAD v3: 2-85551967-C-G
• gnomAD v4: 2-85551967-C-G
• MyVariant Identifiers: chr2:g.85779090C>G (hg19) ; chr2:g.85551967C>G (hg38)
• PubMed: PMID:15287948

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551967C>G , CM000664.2:g.85551967C>G	GRCh38
NC_000002.11:g.85779090C>G , CM000664.1:g.85779090C>G	GRCh37
NC_000002.10:g.85632601C>G	NCBI36
NG_011811.2:g.14568G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5932G>C
ENST00000482662.2:n.4339G>C
ENST00000685865.1:n.2291G>C
ENST00000687250.1:n.1991G>C
ENST00000687995.1:n.1806G>C
ENST00000688205.1:c.*1047G>C	ENSP00000509673.1:n.*1047G>C
ENST00000688788.1:n.1693G>C
ENST00000689276.1:c.1385G>C	ENSP00000510012.1:p.Arg462Pro
ENST00000689576.1:c.*73G>C	ENSP00000508712.1:n.*73G>C
ENST00000690108.1:c.*1110G>C	ENSP00000510617.1:n.*1110G>C
ENST00000690468.1:c.*6G>C	ENSP00000509078.1:n.*6G>C
ENST00000690595.1:c.779G>C	ENSP00000508979.1:p.Arg260Pro
ENST00000691348.1:c.*6G>C	ENSP00000509369.1:n.*6G>C
ENST00000691410.1:c.*1031G>C	ENSP00000508479.1:n.*1031G>C
ENST00000693287.1:c.770G>C	ENSP00000510264.1:p.Arg257Pro
ENST00000693681.1:c.767G>C	ENSP00000510789.1:p.Arg256Pro
ENST00000233838.9:c.1454G>C MANE Select	ENSP00000233838.3:p.Arg485Pro
ENST00000233838.8:c.1454G>C	ENSP00000233838.3:p.Arg485Pro
ENST00000430215.7:c.1283G>C	ENSP00000408045.3:p.Arg428Pro
ENST00000465637.5:n.179-3963G>C
NM_000821.5:c.1454G>C	NP_000812.2:p.Arg485Pro
NM_000821.6:c.1454G>C	NP_000812.2:p.Arg485Pro
NM_001142269.2:c.1283G>C	NP_001135741.1:p.Arg428Pro
NM_001142269.3:c.1283G>C	NP_001135741.1:p.Arg428Pro
XM_005264259.3:c.1454G>C	XP_005264316.1:p.Arg485Pro
XM_011532764.1:c.632G>C	XP_011531066.1:p.Arg211Pro
XM_011532765.1:c.632G>C	XP_011531067.1:p.Arg211Pro
XR_939677.1:n.1367G>C
XM_005264259.5:c.1454G>C	XP_005264316.1:p.Arg485Pro
XM_011532764.3:c.632G>C	XP_011531066.1:p.Arg211Pro
XM_011532765.3:c.632G>C	XP_011531067.1:p.Arg211Pro
XM_017003803.2:c.1283G>C	XP_016859292.1:p.Arg428Pro
XR_001738703.2:n.1367G>C
NM_000821.7:c.1454G>C MANE Select	NP_000812.2:p.Arg485Pro
NM_001142269.4:c.1283G>C	NP_001135741.1:p.Arg428Pro