Canonical Allele Identifier: CA347484716

Gene: GGCX

Linked Data

• ClinVar Variation Id: 995973
• ClinVar RCV Id: RCV001290234
• dbSNP Id: rs1691965570
• gnomAD v4: 2-85551812-C-A
• MyVariant Identifiers: chr2:g.85778935C>A (hg19) ; chr2:g.85551812C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551812C>A , CM000664.2:g.85551812C>A	GRCh38
NC_000002.11:g.85778935C>A , CM000664.1:g.85778935C>A	GRCh37
NC_000002.10:g.85632446C>A	NCBI36
NG_011811.2:g.14723G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6087G>T
ENST00000482662.2:n.4494G>T
ENST00000685865.1:n.2446G>T
ENST00000687250.1:n.2146G>T
ENST00000687995.1:n.1961G>T
ENST00000688205.1:c.*1202G>T	ENSP00000509673.1:n.*1202G>T
ENST00000688788.1:n.1848G>T
ENST00000689276.1:c.1540G>T	ENSP00000510012.1:p.Gly514Ter
ENST00000689576.1:c.*228G>T	ENSP00000508712.1:n.*228G>T
ENST00000690108.1:c.*1265G>T	ENSP00000510617.1:n.*1265G>T
ENST00000690468.1:c.*161G>T	ENSP00000509078.1:n.*161G>T
ENST00000690595.1:c.934G>T	ENSP00000508979.1:p.Gly312Ter
ENST00000691348.1:c.*161G>T	ENSP00000509369.1:n.*161G>T
ENST00000691410.1:c.*1186G>T	ENSP00000508479.1:n.*1186G>T
ENST00000693287.1:c.925G>T	ENSP00000510264.1:p.Gly309Ter
ENST00000693681.1:c.922G>T	ENSP00000510789.1:p.Gly308Ter
ENST00000233838.9:c.1609G>T MANE Select	ENSP00000233838.3:p.Gly537Ter
ENST00000233838.8:c.1609G>T	ENSP00000233838.3:p.Gly537Ter
ENST00000430215.7:c.1438G>T	ENSP00000408045.3:p.Gly480Ter
ENST00000465637.5:n.179-3808G>T
NM_000821.5:c.1609G>T	NP_000812.2:p.Gly537Ter
NM_000821.6:c.1609G>T	NP_000812.2:p.Gly537Ter
NM_001142269.2:c.1438G>T	NP_001135741.1:p.Gly480Ter
NM_001142269.3:c.1438G>T	NP_001135741.1:p.Gly480Ter
XM_005264259.3:c.1609G>T	XP_005264316.1:p.Gly537Ter
XM_011532764.1:c.787G>T	XP_011531066.1:p.Gly263Ter
XM_011532765.1:c.787G>T	XP_011531067.1:p.Gly263Ter
XR_939677.1:n.1522G>T
XM_005264259.5:c.1609G>T	XP_005264316.1:p.Gly537Ter
XM_011532764.3:c.787G>T	XP_011531066.1:p.Gly263Ter
XM_011532765.3:c.787G>T	XP_011531067.1:p.Gly263Ter
XM_017003803.2:c.1438G>T	XP_016859292.1:p.Gly480Ter
XR_001738703.2:n.1522G>T
NM_000821.7:c.1609G>T MANE Select	NP_000812.2:p.Gly537Ter
NM_001142269.4:c.1438G>T	NP_001135741.1:p.Gly480Ter