Canonical Allele Identifier: CA351018893

Gene: GIGYF2

Linked Data

• MyVariant Identifiers: chr2:g.233674475G>A (hg19) ; chr2:g.232809765G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809765G>A , CM000664.2:g.232809765G>A	GRCh38
NC_000002.11:g.233674475G>A , CM000664.1:g.233674475G>A	GRCh37
NC_000002.10:g.233382719G>A	NCBI36
NG_011847.1:g.117461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1852G>A MANE Select	ENSP00000362664.5:p.Ala618Thr
ENST00000676848.1:c.1198G>A	ENSP00000503313.1:p.Ala400Thr
ENST00000677450.1:c.1333G>A	ENSP00000503420.1:p.Ala445Thr
ENST00000677591.1:c.1108G>A	ENSP00000503061.1:p.Ala370Thr
ENST00000678230.1:c.1345G>A	ENSP00000504272.1:p.Ala449Thr
ENST00000678339.1:c.1108G>A	ENSP00000503437.1:p.Ala370Thr
ENST00000678466.1:c.1108G>A	ENSP00000504219.1:p.Ala370Thr
ENST00000678885.1:c.1108G>A	ENSP00000503563.1:p.Ala370Thr
ENST00000373563.8:c.1852G>A	ENSP00000362664.4:p.Ala618Thr
ENST00000409196.7:c.1834G>A	ENSP00000387070.3:p.Ala612Thr
ENST00000409451.7:c.1915G>A	ENSP00000387170.3:p.Ala639Thr
ENST00000409480.5:c.1918G>A	ENSP00000386765.1:p.Ala640Thr
ENST00000409547.5:c.1852G>A	ENSP00000386537.1:p.Ala618Thr
ENST00000423659.5:c.1681G>A	ENSP00000404195.1:p.Ala561Thr
ENST00000440945.5:c.1834G>A	ENSP00000410297.1:p.Ala612Thr
ENST00000482952.5:n.90G>A
ENST00000629305.2:c.1918G>A	ENSP00000487548.1:p.Ala640Thr
NM_001103146.1:c.1852G>A	NP_001096616.1:p.Ala618Thr
NM_001103147.1:c.1915G>A	NP_001096617.1:p.Ala639Thr
NM_001103148.1:c.1834G>A	NP_001096618.1:p.Ala612Thr
NM_015575.3:c.1852G>A	NP_056390.2:p.Ala618Thr
NR_103492.1:n.1965G>A
NM_001103146.3:c.1852G>A MANE Select	NP_001096616.1:p.Ala618Thr
NM_001103147.2:c.1915G>A	NP_001096617.1:p.Ala639Thr
NM_001103148.2:c.1834G>A	NP_001096618.1:p.Ala612Thr
NM_015575.4:c.1852G>A	NP_056390.2:p.Ala618Thr