Canonical Allele Identifier: CA351014059

Gene: GIGYF2

Linked Data

• MyVariant Identifiers: chr2:g.233656141C>G (hg19) ; chr2:g.232791431C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232791431C>G , CM000664.2:g.232791431C>G	GRCh38
NC_000002.11:g.233656141C>G , CM000664.1:g.233656141C>G	GRCh37
NC_000002.10:g.233364385C>G	NCBI36
NG_011847.1:g.99127C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1267C>G MANE Select	ENSP00000362664.5:p.Pro423Ala
ENST00000676848.1:c.613C>G	ENSP00000503313.1:p.Pro205Ala
ENST00000677450.1:c.748C>G	ENSP00000503420.1:p.Pro250Ala
ENST00000677591.1:c.523C>G	ENSP00000503061.1:p.Pro175Ala
ENST00000678230.1:c.760C>G	ENSP00000504272.1:p.Pro254Ala
ENST00000678339.1:c.523C>G	ENSP00000503437.1:p.Pro175Ala
ENST00000678466.1:c.523C>G	ENSP00000504219.1:p.Pro175Ala
ENST00000678885.1:c.523C>G	ENSP00000503563.1:p.Pro175Ala
ENST00000373563.8:c.1267C>G	ENSP00000362664.4:p.Pro423Ala
ENST00000409196.7:c.1249C>G	ENSP00000387070.3:p.Pro417Ala
ENST00000409451.7:c.1330C>G	ENSP00000387170.3:p.Pro444Ala
ENST00000409480.5:c.1333C>G	ENSP00000386765.1:p.Pro445Ala
ENST00000409547.5:c.1267C>G	ENSP00000386537.1:p.Pro423Ala
ENST00000423659.5:c.1096C>G	ENSP00000404195.1:p.Pro366Ala
ENST00000440945.5:c.1249C>G	ENSP00000410297.1:p.Pro417Ala
ENST00000458528.1:c.*260C>G	ENSP00000389322.1:n.*260C>G
ENST00000629305.2:c.1333C>G	ENSP00000487548.1:p.Pro445Ala
NM_001103146.1:c.1267C>G	NP_001096616.1:p.Pro423Ala
NM_001103147.1:c.1330C>G	NP_001096617.1:p.Pro444Ala
NM_001103148.1:c.1249C>G	NP_001096618.1:p.Pro417Ala
NM_015575.3:c.1267C>G	NP_056390.2:p.Pro423Ala
NR_103492.1:n.1380C>G
NM_001103146.3:c.1267C>G MANE Select	NP_001096616.1:p.Pro423Ala
NM_001103147.2:c.1330C>G	NP_001096617.1:p.Pro444Ala
NM_001103148.2:c.1249C>G	NP_001096618.1:p.Pro417Ala
NM_015575.4:c.1267C>G	NP_056390.2:p.Pro423Ala