Canonical Allele Identifier: CA1741782

Gene: GGCX

Linked Data

• ClinVar Variation Id: 2203109
• ClinVar RCV Id: RCV002634381
• dbSNP Id: rs375643655
• ExAC: 2:85778949 A / G
• gnomAD v2: 2-85778949-A-G
• gnomAD v3: 2-85551826-A-G
• gnomAD v4: 2-85551826-A-G
• MyVariant Identifiers: chr2:g.85778949A>G (hg19) ; chr2:g.85551826A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551826A>G , CM000664.2:g.85551826A>G	GRCh38
NC_000002.11:g.85778949A>G , CM000664.1:g.85778949A>G	GRCh37
NC_000002.10:g.85632460A>G	NCBI36
NG_011811.2:g.14709T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6073T>C
ENST00000482662.2:n.4480T>C
ENST00000685865.1:n.2432T>C
ENST00000687250.1:n.2132T>C
ENST00000687995.1:n.1947T>C
ENST00000688205.1:c.*1188T>C	ENSP00000509673.1:n.*1188T>C
ENST00000688788.1:n.1834T>C
ENST00000689276.1:c.1526T>C	ENSP00000510012.1:p.Ile509Thr
ENST00000689576.1:c.*214T>C	ENSP00000508712.1:n.*214T>C
ENST00000690108.1:c.*1251T>C	ENSP00000510617.1:n.*1251T>C
ENST00000690468.1:c.*147T>C	ENSP00000509078.1:n.*147T>C
ENST00000690595.1:c.920T>C	ENSP00000508979.1:p.Ile307Thr
ENST00000691348.1:c.*147T>C	ENSP00000509369.1:n.*147T>C
ENST00000691410.1:c.*1172T>C	ENSP00000508479.1:n.*1172T>C
ENST00000693287.1:c.911T>C	ENSP00000510264.1:p.Ile304Thr
ENST00000693681.1:c.908T>C	ENSP00000510789.1:p.Ile303Thr
ENST00000233838.9:c.1595T>C MANE Select	ENSP00000233838.3:p.Ile532Thr
ENST00000233838.8:c.1595T>C	ENSP00000233838.3:p.Ile532Thr
ENST00000430215.7:c.1424T>C	ENSP00000408045.3:p.Ile475Thr
ENST00000465637.5:n.179-3822T>C
NM_000821.5:c.1595T>C	NP_000812.2:p.Ile532Thr
NM_000821.6:c.1595T>C	NP_000812.2:p.Ile532Thr
NM_001142269.2:c.1424T>C	NP_001135741.1:p.Ile475Thr
NM_001142269.3:c.1424T>C	NP_001135741.1:p.Ile475Thr
XM_005264259.3:c.1595T>C	XP_005264316.1:p.Ile532Thr
XM_011532764.1:c.773T>C	XP_011531066.1:p.Ile258Thr
XM_011532765.1:c.773T>C	XP_011531067.1:p.Ile258Thr
XR_939677.1:n.1508T>C
XM_005264259.5:c.1595T>C	XP_005264316.1:p.Ile532Thr
XM_011532764.3:c.773T>C	XP_011531066.1:p.Ile258Thr
XM_011532765.3:c.773T>C	XP_011531067.1:p.Ile258Thr
XM_017003803.2:c.1424T>C	XP_016859292.1:p.Ile475Thr
XR_001738703.2:n.1508T>C
NM_000821.7:c.1595T>C MANE Select	NP_000812.2:p.Ile532Thr
NM_001142269.4:c.1424T>C	NP_001135741.1:p.Ile475Thr