Canonical Allele Identifier: CA1742157

Gene: GGCX

Linked Data

• dbSNP Id: rs756120101
• ExAC: 2:85786015 C / G
• gnomAD v2: 2-85786015-C-G
• gnomAD v4: 2-85558892-C-G
• MyVariant Identifiers: chr2:g.85786015C>G (hg19) ; chr2:g.85558892C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85558892C>G , CM000664.2:g.85558892C>G	GRCh38
NC_000002.11:g.85786015C>G , CM000664.1:g.85786015C>G	GRCh37
NC_000002.10:g.85639526C>G	NCBI36
NG_011811.2:g.7643G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.184G>C
ENST00000482662.2:n.411+54G>C
ENST00000496962.2:c.398G>C	ENSP00000508856.1:p.Ter133Ser
ENST00000685865.1:n.490G>C
ENST00000687250.1:n.476+25G>C
ENST00000687995.1:n.439G>C
ENST00000688205.1:c.373+25G>C	ENSP00000509673.1:n.373+25G>C
ENST00000688788.1:n.490G>C
ENST00000689276.1:c.344+54G>C	ENSP00000510012.1:n.344+54G>C
ENST00000689576.1:c.373+25G>C	ENSP00000508712.1:n.373+25G>C
ENST00000690108.1:c.344+54G>C	ENSP00000510617.1:n.344+54G>C
ENST00000690468.1:c.173+54G>C	ENSP00000509078.1:n.173+54G>C
ENST00000690595.1:c.214+1923G>C	ENSP00000508979.1:n.214+1923G>C
ENST00000691348.1:c.202+25G>C	ENSP00000509369.1:n.202+25G>C
ENST00000691410.1:c.344+54G>C	ENSP00000508479.1:n.344+54G>C
ENST00000693287.1:c.-67+2494G>C	ENSP00000510264.1:n.-67+2494G>C
ENST00000693681.1:c.202+25G>C	ENSP00000510789.1:n.202+25G>C
ENST00000233838.9:c.373+25G>C MANE Select	ENSP00000233838.3:n.373+25G>C
ENST00000233838.8:c.373+25G>C	ENSP00000233838.3:n.373+25G>C
ENST00000421496.5:c.173+54G>C	ENSP00000400384.1:n.173+54G>C
ENST00000423570.5:c.344+54G>C	ENSP00000389426.1:n.344+54G>C
ENST00000428479.3:c.202+25G>C	ENSP00000390748.3:n.202+25G>C
ENST00000430215.7:c.202+25G>C	ENSP00000408045.3:n.202+25G>C
ENST00000465637.5:n.178+114G>C
ENST00000481541.1:n.292G>C
ENST00000496962.1:n.517G>C
NM_000821.5:c.373+25G>C	NP_000812.2:n.373+25G>C
NM_000821.6:c.373+25G>C	NP_000812.2:n.373+25G>C
NM_001142269.2:c.202+25G>C	NP_001135741.1:n.202+25G>C
NM_001142269.3:c.202+25G>C	NP_001135741.1:n.202+25G>C
NM_001311312.1:c.398G>C	NP_001298241.1:p.Ter133Ser
XM_005264259.3:c.373+25G>C	XP_005264316.1:n.373+25G>C
XM_011532764.1:c.-286+25G>C	XP_011531066.1:n.-286+25G>C
XM_011532765.1:c.-286+25G>C	XP_011531067.1:n.-286+25G>C
XR_939677.1:n.438+25G>C
XM_005264259.5:c.373+25G>C	XP_005264316.1:n.373+25G>C
XM_011532764.3:c.-286+25G>C	XP_011531066.1:n.-286+25G>C
XM_011532765.3:c.-286+25G>C	XP_011531067.1:n.-286+25G>C
XM_017003803.2:c.202+25G>C	XP_016859292.1:n.202+25G>C
XR_001738703.2:n.438+25G>C
NM_000821.7:c.373+25G>C MANE Select	NP_000812.2:n.373+25G>C
NM_001142269.4:c.202+25G>C	NP_001135741.1:n.202+25G>C
NM_001311312.2:c.398G>C	NP_001298241.1:p.Ter133Ser