Canonical Allele Identifier: CA431808289

Gene: GIGYF2

Linked Data

• MyVariant Identifiers: chr2:g.233656140G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232791430G>T , CM000664.2:g.232791430G>T	GRCh38
NC_000002.11:g.233656140G>T , CM000664.1:g.233656140G>T	GRCh37
NC_000002.10:g.233364384G>T	NCBI36
NG_011847.1:g.99126G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373563.9:c.1266G>T MANE Select	ENSP00000362664.5:p.Val422=
ENST00000676848.1:c.612G>T	ENSP00000503313.1:p.Val204=
ENST00000677450.1:c.747G>T	ENSP00000503420.1:p.Val249=
ENST00000677591.1:c.522G>T	ENSP00000503061.1:p.Val174=
ENST00000678230.1:c.759G>T	ENSP00000504272.1:p.Val253=
ENST00000678339.1:c.522G>T	ENSP00000503437.1:p.Val174=
ENST00000678466.1:c.522G>T	ENSP00000504219.1:p.Val174=
ENST00000678885.1:c.522G>T	ENSP00000503563.1:p.Val174=
ENST00000373563.8:c.1266G>T	ENSP00000362664.4:p.Val422=
ENST00000409196.7:c.1248G>T	ENSP00000387070.3:p.Val416=
ENST00000409451.7:c.1329G>T	ENSP00000387170.3:p.Val443=
ENST00000409480.5:c.1332G>T	ENSP00000386765.1:p.Val444=
ENST00000409547.5:c.1266G>T	ENSP00000386537.1:p.Val422=
ENST00000423659.5:c.1095G>T	ENSP00000404195.1:p.Val365=
ENST00000440945.5:c.1248G>T	ENSP00000410297.1:p.Val416=
ENST00000458528.1:c.*259G>T	ENSP00000389322.1:n.*259G>T
ENST00000629305.2:c.1332G>T	ENSP00000487548.1:p.Val444=
NM_001103146.1:c.1266G>T	NP_001096616.1:p.Val422=
NM_001103147.1:c.1329G>T	NP_001096617.1:p.Val443=
NM_001103148.1:c.1248G>T	NP_001096618.1:p.Val416=
NM_015575.3:c.1266G>T	NP_056390.2:p.Val422=
NR_103492.1:n.1379G>T
NM_001103146.3:c.1266G>T MANE Select	NP_001096616.1:p.Val422=
NM_001103147.2:c.1329G>T	NP_001096617.1:p.Val443=
NM_001103148.2:c.1248G>T	NP_001096618.1:p.Val416=
NM_015575.4:c.1266G>T	NP_056390.2:p.Val422=