Canonical Allele Identifier: CA431809989

Gene: GIGYF2

Linked Data

• gnomAD v4: 2-232809752-G-A
• MyVariant Identifiers: chr2:g.233674462G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809752G>A , CM000664.2:g.232809752G>A	GRCh38
NC_000002.11:g.233674462G>A , CM000664.1:g.233674462G>A	GRCh37
NC_000002.10:g.233382706G>A	NCBI36
NG_011847.1:g.117448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1839G>A MANE Select	ENSP00000362664.5:p.Gln613=
ENST00000676848.1:c.1185G>A	ENSP00000503313.1:p.Gln395=
ENST00000677450.1:c.1320G>A	ENSP00000503420.1:p.Gln440=
ENST00000677591.1:c.1095G>A	ENSP00000503061.1:p.Gln365=
ENST00000678230.1:c.1332G>A	ENSP00000504272.1:p.Gln444=
ENST00000678339.1:c.1095G>A	ENSP00000503437.1:p.Gln365=
ENST00000678466.1:c.1095G>A	ENSP00000504219.1:p.Gln365=
ENST00000678885.1:c.1095G>A	ENSP00000503563.1:p.Gln365=
ENST00000373563.8:c.1839G>A	ENSP00000362664.4:p.Gln613=
ENST00000409196.7:c.1821G>A	ENSP00000387070.3:p.Gln607=
ENST00000409451.7:c.1902G>A	ENSP00000387170.3:p.Gln634=
ENST00000409480.5:c.1905G>A	ENSP00000386765.1:p.Gln635=
ENST00000409547.5:c.1839G>A	ENSP00000386537.1:p.Gln613=
ENST00000423659.5:c.1668G>A	ENSP00000404195.1:p.Gln556=
ENST00000440945.5:c.1821G>A	ENSP00000410297.1:p.Gln607=
ENST00000482952.5:n.77G>A
ENST00000629305.2:c.1905G>A	ENSP00000487548.1:p.Gln635=
NM_001103146.1:c.1839G>A	NP_001096616.1:p.Gln613=
NM_001103147.1:c.1902G>A	NP_001096617.1:p.Gln634=
NM_001103148.1:c.1821G>A	NP_001096618.1:p.Gln607=
NM_015575.3:c.1839G>A	NP_056390.2:p.Gln613=
NR_103492.1:n.1952G>A
NM_001103146.3:c.1839G>A MANE Select	NP_001096616.1:p.Gln613=
NM_001103147.2:c.1902G>A	NP_001096617.1:p.Gln634=
NM_001103148.2:c.1821G>A	NP_001096618.1:p.Gln607=
NM_015575.4:c.1839G>A	NP_056390.2:p.Gln613=