Canonical Allele Identifier: CA351014057

Gene: GIGYF2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1267C>A MANE Select	ENSP00000362664.5:p.Pro423Thr
ENST00000676848.1:c.613C>A	ENSP00000503313.1:p.Pro205Thr
ENST00000677450.1:c.748C>A	ENSP00000503420.1:p.Pro250Thr
ENST00000677591.1:c.523C>A	ENSP00000503061.1:p.Pro175Thr
ENST00000678230.1:c.760C>A	ENSP00000504272.1:p.Pro254Thr
ENST00000678339.1:c.523C>A	ENSP00000503437.1:p.Pro175Thr
ENST00000678466.1:c.523C>A	ENSP00000504219.1:p.Pro175Thr
ENST00000678885.1:c.523C>A	ENSP00000503563.1:p.Pro175Thr
ENST00000373563.8:c.1267C>A	ENSP00000362664.4:p.Pro423Thr
ENST00000409196.7:c.1249C>A	ENSP00000387070.3:p.Pro417Thr
ENST00000409451.7:c.1330C>A	ENSP00000387170.3:p.Pro444Thr
ENST00000409480.5:c.1333C>A	ENSP00000386765.1:p.Pro445Thr
ENST00000409547.5:c.1267C>A	ENSP00000386537.1:p.Pro423Thr
ENST00000423659.5:c.1096C>A	ENSP00000404195.1:p.Pro366Thr
ENST00000440945.5:c.1249C>A	ENSP00000410297.1:p.Pro417Thr
ENST00000458528.1:c.*260C>A	ENSP00000389322.1:n.*260C>A
ENST00000629305.2:c.1333C>A	ENSP00000487548.1:p.Pro445Thr
NM_001103146.1:c.1267C>A	NP_001096616.1:p.Pro423Thr
NM_001103147.1:c.1330C>A	NP_001096617.1:p.Pro444Thr
NM_001103148.1:c.1249C>A	NP_001096618.1:p.Pro417Thr
NM_015575.3:c.1267C>A	NP_056390.2:p.Pro423Thr
NR_103492.1:n.1380C>A
NM_001103146.3:c.1267C>A MANE Select	NP_001096616.1:p.Pro423Thr
NM_001103147.2:c.1330C>A	NP_001096617.1:p.Pro444Thr
NM_001103148.2:c.1249C>A	NP_001096618.1:p.Pro417Thr
NM_015575.4:c.1267C>A	NP_056390.2:p.Pro423Thr