Canonical Allele Identifier: CA2170187

Gene: GIGYF2

Linked Data

• dbSNP Id: rs767938699
• ExAC: 2:233655435 A / T
• gnomAD v2: 2-233655435-A-T
• gnomAD v4: 2-232790725-A-T
• MyVariant Identifiers: chr2:g.233655435A>T (hg19) ; chr2:g.232790725A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232790725A>T , CM000664.2:g.232790725A>T	GRCh38
NC_000002.11:g.233655435A>T , CM000664.1:g.233655435A>T	GRCh37
NC_000002.10:g.233363679A>T	NCBI36
NG_011847.1:g.98421A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373563.9:c.740A>T MANE Select	ENSP00000362664.5:p.Glu247Val
ENST00000676848.1:c.86A>T	ENSP00000503313.1:p.Glu29Val
ENST00000677450.1:c.221A>T	ENSP00000503420.1:p.Glu74Val
ENST00000677591.1:c.-5A>T	ENSP00000503061.1:n.-5A>T
ENST00000678230.1:c.233A>T	ENSP00000504272.1:p.Glu78Val
ENST00000678339.1:c.-5A>T	ENSP00000503437.1:n.-5A>T
ENST00000678466.1:c.-5A>T	ENSP00000504219.1:n.-5A>T
ENST00000678885.1:c.-5A>T	ENSP00000503563.1:n.-5A>T
ENST00000373563.8:c.740A>T	ENSP00000362664.4:p.Glu247Val
ENST00000409196.7:c.722A>T	ENSP00000387070.3:p.Glu241Val
ENST00000409451.7:c.806A>T	ENSP00000387170.3:p.Glu269Val
ENST00000409480.5:c.806A>T	ENSP00000386765.1:p.Glu269Val
ENST00000409547.5:c.740A>T	ENSP00000386537.1:p.Glu247Val
ENST00000410033.1:c.86A>T	ENSP00000387276.1:p.Glu29Val
ENST00000421778.1:c.221A>T	ENSP00000390325.1:p.Glu74Val
ENST00000423659.5:c.569A>T	ENSP00000404195.1:p.Glu190Val
ENST00000424414.6:c.-5A>T	ENSP00000401261.2:n.-5A>T
ENST00000427649.5:c.-5A>T	ENSP00000398055.1:n.-5A>T
ENST00000436349.5:c.-5A>T	ENSP00000400076.1:n.-5A>T
ENST00000440945.5:c.722A>T	ENSP00000410297.1:p.Glu241Val
ENST00000445650.5:c.233A>T	ENSP00000392218.1:p.Glu78Val
ENST00000455139.5:c.-5A>T	ENSP00000395299.1:n.-5A>T
ENST00000458528.1:c.86A>T	ENSP00000389322.1:p.Glu29Val
ENST00000629305.2:c.806A>T	ENSP00000487548.1:p.Glu269Val
NM_001103146.1:c.740A>T	NP_001096616.1:p.Glu247Val
NM_001103147.1:c.806A>T	NP_001096617.1:p.Glu269Val
NM_001103148.1:c.722A>T	NP_001096618.1:p.Glu241Val
NM_015575.3:c.740A>T	NP_056390.2:p.Glu247Val
NR_103492.1:n.853A>T
NM_001103146.3:c.740A>T MANE Select	NP_001096616.1:p.Glu247Val
NM_001103147.2:c.806A>T	NP_001096617.1:p.Glu269Val
NM_001103148.2:c.722A>T	NP_001096618.1:p.Glu241Val
NM_015575.4:c.740A>T	NP_056390.2:p.Glu247Val