Canonical Allele Identifier: CA2170186

Gene: GIGYF2

Linked Data

• dbSNP Id: rs757690621
• ExAC: 2:233655432 G / C
• gnomAD v2: 2-233655432-G-C
• gnomAD v4: 2-232790722-G-C
• MyVariant Identifiers: chr2:g.233655432G>C (hg19) ; chr2:g.232790722G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232790722G>C , CM000664.2:g.232790722G>C	GRCh38
NC_000002.11:g.233655432G>C , CM000664.1:g.233655432G>C	GRCh37
NC_000002.10:g.233363676G>C	NCBI36
NG_011847.1:g.98418G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373563.9:c.737G>C MANE Select	ENSP00000362664.5:p.Arg246Pro
ENST00000676848.1:c.83G>C	ENSP00000503313.1:p.Arg28Pro
ENST00000677450.1:c.218G>C	ENSP00000503420.1:p.Arg73Pro
ENST00000677591.1:c.-8G>C	ENSP00000503061.1:n.-8G>C
ENST00000678230.1:c.230G>C	ENSP00000504272.1:p.Arg77Pro
ENST00000678339.1:c.-8G>C	ENSP00000503437.1:n.-8G>C
ENST00000678466.1:c.-8G>C	ENSP00000504219.1:n.-8G>C
ENST00000678885.1:c.-8G>C	ENSP00000503563.1:n.-8G>C
ENST00000373563.8:c.737G>C	ENSP00000362664.4:p.Arg246Pro
ENST00000409196.7:c.719G>C	ENSP00000387070.3:p.Arg240Pro
ENST00000409451.7:c.803G>C	ENSP00000387170.3:p.Arg268Pro
ENST00000409480.5:c.803G>C	ENSP00000386765.1:p.Arg268Pro
ENST00000409547.5:c.737G>C	ENSP00000386537.1:p.Arg246Pro
ENST00000410033.1:c.83G>C	ENSP00000387276.1:p.Arg28Pro
ENST00000421778.1:c.218G>C	ENSP00000390325.1:p.Arg73Pro
ENST00000423659.5:c.566G>C	ENSP00000404195.1:p.Arg189Pro
ENST00000424414.6:c.-8G>C	ENSP00000401261.2:n.-8G>C
ENST00000427649.5:c.-8G>C	ENSP00000398055.1:n.-8G>C
ENST00000436349.5:c.-8G>C	ENSP00000400076.1:n.-8G>C
ENST00000440945.5:c.719G>C	ENSP00000410297.1:p.Arg240Pro
ENST00000445650.5:c.230G>C	ENSP00000392218.1:p.Arg77Pro
ENST00000455139.5:c.-8G>C	ENSP00000395299.1:n.-8G>C
ENST00000458528.1:c.83G>C	ENSP00000389322.1:p.Arg28Pro
ENST00000629305.2:c.803G>C	ENSP00000487548.1:p.Arg268Pro
NM_001103146.1:c.737G>C	NP_001096616.1:p.Arg246Pro
NM_001103147.1:c.803G>C	NP_001096617.1:p.Arg268Pro
NM_001103148.1:c.719G>C	NP_001096618.1:p.Arg240Pro
NM_015575.3:c.737G>C	NP_056390.2:p.Arg246Pro
NR_103492.1:n.850G>C
NM_001103146.3:c.737G>C MANE Select	NP_001096616.1:p.Arg246Pro
NM_001103147.2:c.803G>C	NP_001096617.1:p.Arg268Pro
NM_001103148.2:c.719G>C	NP_001096618.1:p.Arg240Pro
NM_015575.4:c.737G>C	NP_056390.2:p.Arg246Pro