Canonical Allele Identifier: CA2170446

Gene: GIGYF2

Linked Data

• dbSNP Id: rs750196727
• ExAC: 2:233674423 T / A
• gnomAD v2: 2-233674423-T-A
• gnomAD v3: 2-232809713-T-A
• gnomAD v4: 2-232809713-T-A
• MyVariant Identifiers: chr2:g.233674423T>A (hg19) ; chr2:g.232809713T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809713T>A , CM000664.2:g.232809713T>A	GRCh38
NC_000002.11:g.233674423T>A , CM000664.1:g.233674423T>A	GRCh37
NC_000002.10:g.233382667T>A	NCBI36
NG_011847.1:g.117409T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1807-7T>A MANE Select	ENSP00000362664.5:n.1807-7T>A
ENST00000676848.1:c.1153-7T>A	ENSP00000503313.1:n.1153-7T>A
ENST00000677450.1:c.1288-7T>A	ENSP00000503420.1:n.1288-7T>A
ENST00000677591.1:c.1063-7T>A	ENSP00000503061.1:n.1063-7T>A
ENST00000678230.1:c.1300-7T>A	ENSP00000504272.1:n.1300-7T>A
ENST00000678339.1:c.1063-7T>A	ENSP00000503437.1:n.1063-7T>A
ENST00000678466.1:c.1063-7T>A	ENSP00000504219.1:n.1063-7T>A
ENST00000678885.1:c.1063-7T>A	ENSP00000503563.1:n.1063-7T>A
ENST00000373563.8:c.1807-7T>A	ENSP00000362664.4:n.1807-7T>A
ENST00000409196.7:c.1789-7T>A	ENSP00000387070.3:n.1789-7T>A
ENST00000409451.7:c.1870-7T>A	ENSP00000387170.3:n.1870-7T>A
ENST00000409480.5:c.1873-7T>A	ENSP00000386765.1:n.1873-7T>A
ENST00000409547.5:c.1807-7T>A	ENSP00000386537.1:n.1807-7T>A
ENST00000423659.5:c.1636-7T>A	ENSP00000404195.1:n.1636-7T>A
ENST00000440945.5:c.1789-7T>A	ENSP00000410297.1:n.1789-7T>A
ENST00000482952.5:n.45-7T>A
ENST00000629305.2:c.1873-7T>A	ENSP00000487548.1:n.1873-7T>A
NM_001103146.1:c.1807-7T>A	NP_001096616.1:n.1807-7T>A
NM_001103147.1:c.1870-7T>A	NP_001096617.1:n.1870-7T>A
NM_001103148.1:c.1789-7T>A	NP_001096618.1:n.1789-7T>A
NM_015575.3:c.1807-7T>A	NP_056390.2:n.1807-7T>A
NR_103492.1:n.1920-7T>A
NM_001103146.3:c.1807-7T>A MANE Select	NP_001096616.1:n.1807-7T>A
NM_001103147.2:c.1870-7T>A	NP_001096617.1:n.1870-7T>A
NM_001103148.2:c.1789-7T>A	NP_001096618.1:n.1789-7T>A
NM_015575.4:c.1807-7T>A	NP_056390.2:n.1807-7T>A