Canonical Allele Identifier: CA2832539381

Gene: EIF2B4 GTF3C2-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364495dup , CM000664.2:g.27364495dup	GRCh38
NC_000002.11:g.27587362dup , CM000664.1:g.27587362dup	GRCh37
NC_000002.10:g.27440866dup	NCBI36
NG_009305.1:g.10967dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1481dup (EIF2B4) MANE Select	ENSP00000233552.6:p.Glu495ArgfsTer28
ENST00000347454.8:c.1481dup (EIF2B4)	ENSP00000233552.5:p.Glu495ArgfsTer28
ENST00000405940.6:c.*747dup (EIF2B4)	ENSP00000384375.2:n.*747dup
ENST00000445933.6:c.1478dup (EIF2B4)	ENSP00000394397.2:p.Glu494ArgfsTer28
ENST00000451130.6:c.1541dup (EIF2B4)	ENSP00000394869.2:p.Glu515ArgfsTer28
ENST00000478311.1:n.474dup (EIF2B4)
ENST00000493344.6:c.1544dup (EIF2B4)	ENSP00000429323.1:p.Glu516ArgfsTer28
ENST00000616081.4:c.1472dup (EIF2B4)	ENSP00000477710.1:p.Glu492ArgfsTer28
ENST00000622434.4:c.*747dup (EIF2B4)	ENSP00000479991.1:n.*747dup
NM_001034116.1:c.1481dup (EIF2B4)	NP_001029288.1:p.Glu495ArgfsTer28
NM_015636.3:c.1478dup (EIF2B4)	NP_056451.3:p.Glu494ArgfsTer28
NM_172195.3:c.1541dup (EIF2B4)	NP_751945.2:p.Glu515ArgfsTer28
XM_005264632.1:c.1436dup (EIF2B4)	XP_005264689.1:p.Glu480ArgfsTer28
XM_006712132.1:c.1433dup (EIF2B4)	XP_006712195.1:p.Glu479ArgfsTer28
XM_011533147.1:c.863dup (EIF2B4)	XP_011531449.1:p.Glu289ArgfsTer28
XR_939868.1:n.1772-2929dup (GTF3C2-AS2)
NM_001318965.1:c.1544dup (EIF2B4)	NP_001305894.1:p.Glu516ArgfsTer28
NM_001318966.1:c.1436dup (EIF2B4)	NP_001305895.1:p.Glu480ArgfsTer28
NM_001318967.1:c.1388dup (EIF2B4)	NP_001305896.1:p.Glu464ArgfsTer28
NM_001318968.1:c.896dup (EIF2B4)	NP_001305897.1:p.Glu300ArgfsTer28
NM_001318969.1:c.863dup (EIF2B4)	NP_001305898.1:p.Glu289ArgfsTer28
XM_011533147.2:c.863dup (EIF2B4)	XP_011531449.1:p.Glu289ArgfsTer28
NM_001034116.2:c.1481dup (EIF2B4) MANE Select	NP_001029288.1:p.Glu495ArgfsTer28
NM_001318965.2:c.1544dup (EIF2B4)	NP_001305894.1:p.Glu516ArgfsTer28
NM_001318966.2:c.1436dup (EIF2B4)	NP_001305895.1:p.Glu480ArgfsTer28
NM_001318967.2:c.1388dup (EIF2B4)	NP_001305896.1:p.Glu464ArgfsTer28
NM_001318968.2:c.896dup (EIF2B4)	NP_001305897.1:p.Glu300ArgfsTer28
NM_001318969.2:c.863dup (EIF2B4)	NP_001305898.1:p.Glu289ArgfsTer28
NM_015636.4:c.1478dup (EIF2B4)	NP_056451.3:p.Glu494ArgfsTer28
NM_172195.4:c.1541dup (EIF2B4)	NP_751945.2:p.Glu515ArgfsTer28