Canonical Allele Identifier: CA1742160

Gene: GGCX

Linked Data

• dbSNP Id: rs758482251
• ExAC: 2:85786025 C / T
• gnomAD v2: 2-85786025-C-T
• gnomAD v4: 2-85558902-C-T
• MyVariant Identifiers: chr2:g.85786025C>T (hg19) ; chr2:g.85558902C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85558902C>T , CM000664.2:g.85558902C>T	GRCh38
NC_000002.11:g.85786025C>T , CM000664.1:g.85786025C>T	GRCh37
NC_000002.10:g.85639536C>T	NCBI36
NG_011811.2:g.7633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.174G>A
ENST00000482662.2:n.411+44G>A
ENST00000496962.2:c.388G>A	ENSP00000508856.1:p.Gly130Arg
ENST00000685865.1:n.480G>A
ENST00000687250.1:n.476+15G>A
ENST00000687995.1:n.429G>A
ENST00000688205.1:c.373+15G>A	ENSP00000509673.1:n.373+15G>A
ENST00000688788.1:n.480G>A
ENST00000689276.1:c.344+44G>A	ENSP00000510012.1:n.344+44G>A
ENST00000689576.1:c.373+15G>A	ENSP00000508712.1:n.373+15G>A
ENST00000690108.1:c.344+44G>A	ENSP00000510617.1:n.344+44G>A
ENST00000690468.1:c.173+44G>A	ENSP00000509078.1:n.173+44G>A
ENST00000690595.1:c.214+1913G>A	ENSP00000508979.1:n.214+1913G>A
ENST00000691348.1:c.202+15G>A	ENSP00000509369.1:n.202+15G>A
ENST00000691410.1:c.344+44G>A	ENSP00000508479.1:n.344+44G>A
ENST00000693287.1:c.-67+2484G>A	ENSP00000510264.1:n.-67+2484G>A
ENST00000693681.1:c.202+15G>A	ENSP00000510789.1:n.202+15G>A
ENST00000233838.9:c.373+15G>A MANE Select	ENSP00000233838.3:n.373+15G>A
ENST00000233838.8:c.373+15G>A	ENSP00000233838.3:n.373+15G>A
ENST00000421496.5:c.173+44G>A	ENSP00000400384.1:n.173+44G>A
ENST00000423570.5:c.344+44G>A	ENSP00000389426.1:n.344+44G>A
ENST00000428479.3:c.202+15G>A	ENSP00000390748.3:n.202+15G>A
ENST00000430215.7:c.202+15G>A	ENSP00000408045.3:n.202+15G>A
ENST00000465637.5:n.178+104G>A
ENST00000481541.1:n.282G>A
ENST00000496962.1:n.507G>A
NM_000821.5:c.373+15G>A	NP_000812.2:n.373+15G>A
NM_000821.6:c.373+15G>A	NP_000812.2:n.373+15G>A
NM_001142269.2:c.202+15G>A	NP_001135741.1:n.202+15G>A
NM_001142269.3:c.202+15G>A	NP_001135741.1:n.202+15G>A
NM_001311312.1:c.388G>A	NP_001298241.1:p.Gly130Arg
XM_005264259.3:c.373+15G>A	XP_005264316.1:n.373+15G>A
XM_011532764.1:c.-286+15G>A	XP_011531066.1:n.-286+15G>A
XM_011532765.1:c.-286+15G>A	XP_011531067.1:n.-286+15G>A
XR_939677.1:n.438+15G>A
XM_005264259.5:c.373+15G>A	XP_005264316.1:n.373+15G>A
XM_011532764.3:c.-286+15G>A	XP_011531066.1:n.-286+15G>A
XM_011532765.3:c.-286+15G>A	XP_011531067.1:n.-286+15G>A
XM_017003803.2:c.202+15G>A	XP_016859292.1:n.202+15G>A
XR_001738703.2:n.438+15G>A
NM_000821.7:c.373+15G>A MANE Select	NP_000812.2:n.373+15G>A
NM_001142269.4:c.202+15G>A	NP_001135741.1:n.202+15G>A
NM_001311312.2:c.388G>A	NP_001298241.1:p.Gly130Arg