Canonical Allele Identifier: CA2170214

Gene: GIGYF2

Linked Data

• dbSNP Id: rs770640392
• ExAC: 2:233655578 G / C
• gnomAD v2: 2-233655578-G-C
• gnomAD v4: 2-232790868-G-C
• MyVariant Identifiers: chr2:g.233655578G>C (hg19) ; chr2:g.232790868G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232790868G>C , CM000664.2:g.232790868G>C	GRCh38
NC_000002.11:g.233655578G>C , CM000664.1:g.233655578G>C	GRCh37
NC_000002.10:g.233363822G>C	NCBI36
NG_011847.1:g.98564G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.883G>C MANE Select	ENSP00000362664.5:p.Glu295Gln
ENST00000676848.1:c.229G>C	ENSP00000503313.1:p.Glu77Gln
ENST00000677450.1:c.364G>C	ENSP00000503420.1:p.Glu122Gln
ENST00000677591.1:c.139G>C	ENSP00000503061.1:p.Glu47Gln
ENST00000678230.1:c.376G>C	ENSP00000504272.1:p.Glu126Gln
ENST00000678339.1:c.139G>C	ENSP00000503437.1:p.Glu47Gln
ENST00000678466.1:c.139G>C	ENSP00000504219.1:p.Glu47Gln
ENST00000678885.1:c.139G>C	ENSP00000503563.1:p.Glu47Gln
ENST00000373563.8:c.883G>C	ENSP00000362664.4:p.Glu295Gln
ENST00000409196.7:c.865G>C	ENSP00000387070.3:p.Glu289Gln
ENST00000409451.7:c.949G>C	ENSP00000387170.3:p.Glu317Gln
ENST00000409480.5:c.949G>C	ENSP00000386765.1:p.Glu317Gln
ENST00000409547.5:c.883G>C	ENSP00000386537.1:p.Glu295Gln
ENST00000410033.1:c.229G>C	ENSP00000387276.1:p.Glu77Gln
ENST00000423659.5:c.712G>C	ENSP00000404195.1:p.Glu238Gln
ENST00000424414.6:c.139G>C	ENSP00000401261.2:p.Glu47Gln
ENST00000427649.5:c.139G>C	ENSP00000398055.1:p.Glu47Gln
ENST00000436349.5:c.139G>C	ENSP00000400076.1:p.Glu47Gln
ENST00000440945.5:c.865G>C	ENSP00000410297.1:p.Glu289Gln
ENST00000455139.5:c.139G>C	ENSP00000395299.1:p.Glu47Gln
ENST00000458528.1:c.107+122G>C	ENSP00000389322.1:n.107+122G>C
ENST00000629305.2:c.949G>C	ENSP00000487548.1:p.Glu317Gln
NM_001103146.1:c.883G>C	NP_001096616.1:p.Glu295Gln
NM_001103147.1:c.949G>C	NP_001096617.1:p.Glu317Gln
NM_001103148.1:c.865G>C	NP_001096618.1:p.Glu289Gln
NM_015575.3:c.883G>C	NP_056390.2:p.Glu295Gln
NR_103492.1:n.996G>C
NM_001103146.3:c.883G>C MANE Select	NP_001096616.1:p.Glu295Gln
NM_001103147.2:c.949G>C	NP_001096617.1:p.Glu317Gln
NM_001103148.2:c.865G>C	NP_001096618.1:p.Glu289Gln
NM_015575.4:c.883G>C	NP_056390.2:p.Glu295Gln