Canonical Allele Identifier: CA1741794

Gene: GGCX

Linked Data

• ClinVar Variation Id: 1415170
• ClinVar RCV Id: RCV001945486
• dbSNP Id: rs146811957
• ExAC: 2:85779046 A / C
• gnomAD v2: 2-85779046-A-C
• gnomAD v3: 2-85551923-A-C
• gnomAD v4: 2-85551923-A-C
• MyVariant Identifiers: chr2:g.85779046A>C (hg19) ; chr2:g.85551923A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551923A>C , CM000664.2:g.85551923A>C	GRCh38
NC_000002.11:g.85779046A>C , CM000664.1:g.85779046A>C	GRCh37
NC_000002.10:g.85632557A>C	NCBI36
NG_011811.2:g.14612T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5976T>G
ENST00000482662.2:n.4383T>G
ENST00000685865.1:n.2335T>G
ENST00000687250.1:n.2035T>G
ENST00000687995.1:n.1850T>G
ENST00000688205.1:c.*1091T>G	ENSP00000509673.1:n.*1091T>G
ENST00000688788.1:n.1737T>G
ENST00000689276.1:c.1429T>G	ENSP00000510012.1:p.Ser477Ala
ENST00000689576.1:c.*117T>G	ENSP00000508712.1:n.*117T>G
ENST00000690108.1:c.*1154T>G	ENSP00000510617.1:n.*1154T>G
ENST00000690468.1:c.*50T>G	ENSP00000509078.1:n.*50T>G
ENST00000690595.1:c.823T>G	ENSP00000508979.1:p.Ser275Ala
ENST00000691348.1:c.*50T>G	ENSP00000509369.1:n.*50T>G
ENST00000691410.1:c.*1075T>G	ENSP00000508479.1:n.*1075T>G
ENST00000693287.1:c.814T>G	ENSP00000510264.1:p.Ser272Ala
ENST00000693681.1:c.811T>G	ENSP00000510789.1:p.Ser271Ala
ENST00000233838.9:c.1498T>G MANE Select	ENSP00000233838.3:p.Ser500Ala
ENST00000233838.8:c.1498T>G	ENSP00000233838.3:p.Ser500Ala
ENST00000430215.7:c.1327T>G	ENSP00000408045.3:p.Ser443Ala
ENST00000465637.5:n.179-3919T>G
NM_000821.5:c.1498T>G	NP_000812.2:p.Ser500Ala
NM_000821.6:c.1498T>G	NP_000812.2:p.Ser500Ala
NM_001142269.2:c.1327T>G	NP_001135741.1:p.Ser443Ala
NM_001142269.3:c.1327T>G	NP_001135741.1:p.Ser443Ala
XM_005264259.3:c.1498T>G	XP_005264316.1:p.Ser500Ala
XM_011532764.1:c.676T>G	XP_011531066.1:p.Ser226Ala
XM_011532765.1:c.676T>G	XP_011531067.1:p.Ser226Ala
XR_939677.1:n.1411T>G
XM_005264259.5:c.1498T>G	XP_005264316.1:p.Ser500Ala
XM_011532764.3:c.676T>G	XP_011531066.1:p.Ser226Ala
XM_011532765.3:c.676T>G	XP_011531067.1:p.Ser226Ala
XM_017003803.2:c.1327T>G	XP_016859292.1:p.Ser443Ala
XR_001738703.2:n.1411T>G
NM_000821.7:c.1498T>G MANE Select	NP_000812.2:p.Ser500Ala
NM_001142269.4:c.1327T>G	NP_001135741.1:p.Ser443Ala