Canonical Allele Identifier: CA2663643942

Gene: GIGYF2

Linked Data

• gnomAD v4: 2-232809814-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809814A>G , CM000664.2:g.232809814A>G	GRCh38
NC_000002.11:g.233674524A>G , CM000664.1:g.233674524A>G	GRCh37
NC_000002.10:g.233382768A>G	NCBI36
NG_011847.1:g.117510A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1898+3A>G MANE Select	ENSP00000362664.5:n.1898+3A>G
ENST00000676848.1:c.1244+3A>G	ENSP00000503313.1:n.1244+3A>G
ENST00000677450.1:c.1379+3A>G	ENSP00000503420.1:n.1379+3A>G
ENST00000677591.1:c.1154+3A>G	ENSP00000503061.1:n.1154+3A>G
ENST00000678230.1:c.1391+3A>G	ENSP00000504272.1:n.1391+3A>G
ENST00000678339.1:c.1154+3A>G	ENSP00000503437.1:n.1154+3A>G
ENST00000678466.1:c.1154+3A>G	ENSP00000504219.1:n.1154+3A>G
ENST00000678885.1:c.1154+3A>G	ENSP00000503563.1:n.1154+3A>G
ENST00000373563.8:c.1898+3A>G	ENSP00000362664.4:n.1898+3A>G
ENST00000409196.7:c.1880+3A>G	ENSP00000387070.3:n.1880+3A>G
ENST00000409451.7:c.1961+3A>G	ENSP00000387170.3:n.1961+3A>G
ENST00000409480.5:c.1964+3A>G	ENSP00000386765.1:n.1964+3A>G
ENST00000409547.5:c.1898+3A>G	ENSP00000386537.1:n.1898+3A>G
ENST00000423659.5:c.1727+3A>G	ENSP00000404195.1:n.1727+3A>G
ENST00000440945.5:c.1880+3A>G	ENSP00000410297.1:n.1880+3A>G
ENST00000482952.5:n.136+3A>G
ENST00000629305.2:c.1964+3A>G	ENSP00000487548.1:n.1964+3A>G
NM_001103146.1:c.1898+3A>G	NP_001096616.1:n.1898+3A>G
NM_001103147.1:c.1961+3A>G	NP_001096617.1:n.1961+3A>G
NM_001103148.1:c.1880+3A>G	NP_001096618.1:n.1880+3A>G
NM_015575.3:c.1898+3A>G	NP_056390.2:n.1898+3A>G
NR_103492.1:n.2011+3A>G
NM_001103146.3:c.1898+3A>G MANE Select	NP_001096616.1:n.1898+3A>G
NM_001103147.2:c.1961+3A>G	NP_001096617.1:n.1961+3A>G
NM_001103148.2:c.1880+3A>G	NP_001096618.1:n.1880+3A>G
NM_015575.4:c.1898+3A>G	NP_056390.2:n.1898+3A>G