Canonical Allele Identifier: CA347485002

Gene: GGCX

Linked Data

• ClinVar Variation Id: 1916223
• ClinVar RCV Id: RCV002594418
• dbSNP Id: rs1691973501
• gnomAD v3: 2-85551941-A-C
• gnomAD v4: 2-85551941-A-C
• MyVariant Identifiers: chr2:g.85779064A>C (hg19) ; chr2:g.85551941A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551941A>C , CM000664.2:g.85551941A>C	GRCh38
NC_000002.11:g.85779064A>C , CM000664.1:g.85779064A>C	GRCh37
NC_000002.10:g.85632575A>C	NCBI36
NG_011811.2:g.14594T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5958T>G
ENST00000482662.2:n.4365T>G
ENST00000685865.1:n.2317T>G
ENST00000687250.1:n.2017T>G
ENST00000687995.1:n.1832T>G
ENST00000688205.1:c.*1073T>G	ENSP00000509673.1:n.*1073T>G
ENST00000688788.1:n.1719T>G
ENST00000689276.1:c.1411T>G	ENSP00000510012.1:p.Ser471Ala
ENST00000689576.1:c.*99T>G	ENSP00000508712.1:n.*99T>G
ENST00000690108.1:c.*1136T>G	ENSP00000510617.1:n.*1136T>G
ENST00000690468.1:c.*32T>G	ENSP00000509078.1:n.*32T>G
ENST00000690595.1:c.805T>G	ENSP00000508979.1:p.Ser269Ala
ENST00000691348.1:c.*32T>G	ENSP00000509369.1:n.*32T>G
ENST00000691410.1:c.*1057T>G	ENSP00000508479.1:n.*1057T>G
ENST00000693287.1:c.796T>G	ENSP00000510264.1:p.Ser266Ala
ENST00000693681.1:c.793T>G	ENSP00000510789.1:p.Ser265Ala
ENST00000233838.9:c.1480T>G MANE Select	ENSP00000233838.3:p.Ser494Ala
ENST00000233838.8:c.1480T>G	ENSP00000233838.3:p.Ser494Ala
ENST00000430215.7:c.1309T>G	ENSP00000408045.3:p.Ser437Ala
ENST00000465637.5:n.179-3937T>G
NM_000821.5:c.1480T>G	NP_000812.2:p.Ser494Ala
NM_000821.6:c.1480T>G	NP_000812.2:p.Ser494Ala
NM_001142269.2:c.1309T>G	NP_001135741.1:p.Ser437Ala
NM_001142269.3:c.1309T>G	NP_001135741.1:p.Ser437Ala
XM_005264259.3:c.1480T>G	XP_005264316.1:p.Ser494Ala
XM_011532764.1:c.658T>G	XP_011531066.1:p.Ser220Ala
XM_011532765.1:c.658T>G	XP_011531067.1:p.Ser220Ala
XR_939677.1:n.1393T>G
XM_005264259.5:c.1480T>G	XP_005264316.1:p.Ser494Ala
XM_011532764.3:c.658T>G	XP_011531066.1:p.Ser220Ala
XM_011532765.3:c.658T>G	XP_011531067.1:p.Ser220Ala
XM_017003803.2:c.1309T>G	XP_016859292.1:p.Ser437Ala
XR_001738703.2:n.1393T>G
NM_000821.7:c.1480T>G MANE Select	NP_000812.2:p.Ser494Ala
NM_001142269.4:c.1309T>G	NP_001135741.1:p.Ser437Ala