Canonical Allele Identifier: CA431810074

Gene: GIGYF2

Linked Data

• gnomAD v4: 2-232809806-A-G
• MyVariant Identifiers: chr2:g.233674516A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809806A>G , CM000664.2:g.232809806A>G	GRCh38
NC_000002.11:g.233674516A>G , CM000664.1:g.233674516A>G	GRCh37
NC_000002.10:g.233382760A>G	NCBI36
NG_011847.1:g.117502A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1893A>G MANE Select	ENSP00000362664.5:p.Leu631=
ENST00000676848.1:c.1239A>G	ENSP00000503313.1:p.Leu413=
ENST00000677450.1:c.1374A>G	ENSP00000503420.1:p.Leu458=
ENST00000677591.1:c.1149A>G	ENSP00000503061.1:p.Leu383=
ENST00000678230.1:c.1386A>G	ENSP00000504272.1:p.Leu462=
ENST00000678339.1:c.1149A>G	ENSP00000503437.1:p.Leu383=
ENST00000678466.1:c.1149A>G	ENSP00000504219.1:p.Leu383=
ENST00000678885.1:c.1149A>G	ENSP00000503563.1:p.Leu383=
ENST00000373563.8:c.1893A>G	ENSP00000362664.4:p.Leu631=
ENST00000409196.7:c.1875A>G	ENSP00000387070.3:p.Leu625=
ENST00000409451.7:c.1956A>G	ENSP00000387170.3:p.Leu652=
ENST00000409480.5:c.1959A>G	ENSP00000386765.1:p.Leu653=
ENST00000409547.5:c.1893A>G	ENSP00000386537.1:p.Leu631=
ENST00000423659.5:c.1722A>G	ENSP00000404195.1:p.Leu574=
ENST00000440945.5:c.1875A>G	ENSP00000410297.1:p.Leu625=
ENST00000482952.5:n.131A>G
ENST00000629305.2:c.1959A>G	ENSP00000487548.1:p.Leu653=
NM_001103146.1:c.1893A>G	NP_001096616.1:p.Leu631=
NM_001103147.1:c.1956A>G	NP_001096617.1:p.Leu652=
NM_001103148.1:c.1875A>G	NP_001096618.1:p.Leu625=
NM_015575.3:c.1893A>G	NP_056390.2:p.Leu631=
NR_103492.1:n.2006A>G
NM_001103146.3:c.1893A>G MANE Select	NP_001096616.1:p.Leu631=
NM_001103147.2:c.1956A>G	NP_001096617.1:p.Leu652=
NM_001103148.2:c.1875A>G	NP_001096618.1:p.Leu625=
NM_015575.4:c.1893A>G	NP_056390.2:p.Leu631=