Canonical Allele Identifier: CA351018793

Gene: GIGYF2

Linked Data

• gnomAD v4: 2-232809742-T-G
• MyVariant Identifiers: chr2:g.233674452T>G (hg19) ; chr2:g.232809742T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809742T>G , CM000664.2:g.232809742T>G	GRCh38
NC_000002.11:g.233674452T>G , CM000664.1:g.233674452T>G	GRCh37
NC_000002.10:g.233382696T>G	NCBI36
NG_011847.1:g.117438T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1829T>G MANE Select	ENSP00000362664.5:p.Leu610Arg
ENST00000676848.1:c.1175T>G	ENSP00000503313.1:p.Leu392Arg
ENST00000677450.1:c.1310T>G	ENSP00000503420.1:p.Leu437Arg
ENST00000677591.1:c.1085T>G	ENSP00000503061.1:p.Leu362Arg
ENST00000678230.1:c.1322T>G	ENSP00000504272.1:p.Leu441Arg
ENST00000678339.1:c.1085T>G	ENSP00000503437.1:p.Leu362Arg
ENST00000678466.1:c.1085T>G	ENSP00000504219.1:p.Leu362Arg
ENST00000678885.1:c.1085T>G	ENSP00000503563.1:p.Leu362Arg
ENST00000373563.8:c.1829T>G	ENSP00000362664.4:p.Leu610Arg
ENST00000409196.7:c.1811T>G	ENSP00000387070.3:p.Leu604Arg
ENST00000409451.7:c.1892T>G	ENSP00000387170.3:p.Leu631Arg
ENST00000409480.5:c.1895T>G	ENSP00000386765.1:p.Leu632Arg
ENST00000409547.5:c.1829T>G	ENSP00000386537.1:p.Leu610Arg
ENST00000423659.5:c.1658T>G	ENSP00000404195.1:p.Leu553Arg
ENST00000440945.5:c.1811T>G	ENSP00000410297.1:p.Leu604Arg
ENST00000482952.5:n.67T>G
ENST00000629305.2:c.1895T>G	ENSP00000487548.1:p.Leu632Arg
NM_001103146.1:c.1829T>G	NP_001096616.1:p.Leu610Arg
NM_001103147.1:c.1892T>G	NP_001096617.1:p.Leu631Arg
NM_001103148.1:c.1811T>G	NP_001096618.1:p.Leu604Arg
NM_015575.3:c.1829T>G	NP_056390.2:p.Leu610Arg
NR_103492.1:n.1942T>G
NM_001103146.3:c.1829T>G MANE Select	NP_001096616.1:p.Leu610Arg
NM_001103147.2:c.1892T>G	NP_001096617.1:p.Leu631Arg
NM_001103148.2:c.1811T>G	NP_001096618.1:p.Leu604Arg
NM_015575.4:c.1829T>G	NP_056390.2:p.Leu610Arg