Canonical Allele Identifier: CA2663643940

Gene: GIGYF2

Linked Data

• gnomAD v4: 2-232809793-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809795del , CM000664.2:g.232809795del	GRCh38
NC_000002.11:g.233674505del , CM000664.1:g.233674505del	GRCh37
NC_000002.10:g.233382749del	NCBI36
NG_011847.1:g.117491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1882del MANE Select	ENSP00000362664.5:p.Gln628SerfsTer4
ENST00000676848.1:c.1228del	ENSP00000503313.1:p.Gln410SerfsTer4
ENST00000677450.1:c.1363del	ENSP00000503420.1:p.Gln455SerfsTer4
ENST00000677591.1:c.1138del	ENSP00000503061.1:p.Gln380SerfsTer4
ENST00000678230.1:c.1375del	ENSP00000504272.1:p.Gln459SerfsTer4
ENST00000678339.1:c.1138del	ENSP00000503437.1:p.Gln380SerfsTer4
ENST00000678466.1:c.1138del	ENSP00000504219.1:p.Gln380SerfsTer4
ENST00000678885.1:c.1138del	ENSP00000503563.1:p.Gln380SerfsTer4
ENST00000373563.8:c.1882del	ENSP00000362664.4:p.Gln628SerfsTer4
ENST00000409196.7:c.1864del	ENSP00000387070.3:p.Gln622SerfsTer4
ENST00000409451.7:c.1945del	ENSP00000387170.3:p.Gln649SerfsTer4
ENST00000409480.5:c.1948del	ENSP00000386765.1:p.Gln650SerfsTer4
ENST00000409547.5:c.1882del	ENSP00000386537.1:p.Gln628SerfsTer4
ENST00000423659.5:c.1711del	ENSP00000404195.1:p.Gln571SerfsTer4
ENST00000440945.5:c.1864del	ENSP00000410297.1:p.Gln622SerfsTer4
ENST00000482952.5:n.120del
ENST00000629305.2:c.1948del	ENSP00000487548.1:p.Gln650SerfsTer4
NM_001103146.1:c.1882del	NP_001096616.1:p.Gln628SerfsTer4
NM_001103147.1:c.1945del	NP_001096617.1:p.Gln649SerfsTer4
NM_001103148.1:c.1864del	NP_001096618.1:p.Gln622SerfsTer4
NM_015575.3:c.1882del	NP_056390.2:p.Gln628SerfsTer4
NR_103492.1:n.1995del
NM_001103146.3:c.1882del MANE Select	NP_001096616.1:p.Gln628SerfsTer4
NM_001103147.2:c.1945del	NP_001096617.1:p.Gln649SerfsTer4
NM_001103148.2:c.1864del	NP_001096618.1:p.Gln622SerfsTer4
NM_015575.4:c.1882del	NP_056390.2:p.Gln628SerfsTer4