Canonical Allele Identifier: CA431808159
Gene: GIGYF2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.233655616T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232790906T>A , CM000664.2:g.232790906T>A GRCh38
NC_000002.11:g.233655616T>A , CM000664.1:g.233655616T>A GRCh37
NC_000002.10:g.233363860T>A NCBI36
NG_011847.1:g.98602T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373563.9:c.921T>A MANE Select ENSP00000362664.5:p.Leu307=
ENST00000676848.1:c.267T>A ENSP00000503313.1:p.Leu89=
ENST00000677450.1:c.402T>A ENSP00000503420.1:p.Leu134=
ENST00000677591.1:c.177T>A ENSP00000503061.1:p.Leu59=
ENST00000678230.1:c.414T>A ENSP00000504272.1:p.Leu138=
ENST00000678339.1:c.177T>A ENSP00000503437.1:p.Leu59=
ENST00000678466.1:c.177T>A ENSP00000504219.1:p.Leu59=
ENST00000678885.1:c.177T>A ENSP00000503563.1:p.Leu59=
ENST00000373563.8:c.921T>A ENSP00000362664.4:p.Leu307=
ENST00000409196.7:c.903T>A ENSP00000387070.3:p.Leu301=
ENST00000409451.7:c.987T>A ENSP00000387170.3:p.Leu329=
ENST00000409480.5:c.987T>A ENSP00000386765.1:p.Leu329=
ENST00000409547.5:c.921T>A ENSP00000386537.1:p.Leu307=
ENST00000410033.1:c.267T>A ENSP00000387276.1:p.Leu89=
ENST00000423659.5:c.750T>A ENSP00000404195.1:p.Leu250=
ENST00000424414.6:c.177T>A ENSP00000401261.2:p.Leu59=
ENST00000427649.5:c.177T>A ENSP00000398055.1:p.Leu59=
ENST00000436349.5:c.177T>A ENSP00000400076.1:p.Leu59=
ENST00000440945.5:c.903T>A ENSP00000410297.1:p.Leu301=
ENST00000455139.5:c.177T>A ENSP00000395299.1:p.Leu59=
ENST00000458528.1:c.108-106T>A ENSP00000389322.1:n.108-106T>A
ENST00000629305.2:c.987T>A ENSP00000487548.1:p.Leu329=
NM_001103146.1:c.921T>A NP_001096616.1:p.Leu307=
NM_001103147.1:c.987T>A NP_001096617.1:p.Leu329=
NM_001103148.1:c.903T>A NP_001096618.1:p.Leu301=
NM_015575.3:c.921T>A NP_056390.2:p.Leu307=
NR_103492.1:n.1034T>A
NM_001103146.3:c.921T>A MANE Select NP_001096616.1:p.Leu307=
NM_001103147.2:c.987T>A NP_001096617.1:p.Leu329=
NM_001103148.2:c.903T>A NP_001096618.1:p.Leu301=
NM_015575.4:c.921T>A NP_056390.2:p.Leu307=