Canonical Allele Identifier: CA346196839

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587590T>A (hg19) ; chr2:g.27364723T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364723T>A , CM000664.2:g.27364723T>A	GRCh38
NC_000002.11:g.27587590T>A , CM000664.1:g.27587590T>A	GRCh37
NC_000002.10:g.27441094T>A	NCBI36
NG_009305.1:g.10735A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1367A>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Glu456Val
ENST00000347454.8:c.1367A>T (EIF2B4)	ENSP00000233552.5:p.Glu456Val
ENST00000405940.6:c.*633A>T (EIF2B4)	ENSP00000384375.2:n.*633A>T
ENST00000445933.6:c.1364A>T (EIF2B4)	ENSP00000394397.2:p.Glu455Val
ENST00000451130.6:c.1427A>T (EIF2B4)	ENSP00000394869.2:p.Glu476Val
ENST00000478311.1:n.360A>T (EIF2B4)
ENST00000493344.6:c.1430A>T (EIF2B4)	ENSP00000429323.1:p.Glu477Val
ENST00000616081.4:c.1358A>T (EIF2B4)	ENSP00000477710.1:p.Glu453Val
ENST00000622434.4:c.*633A>T (EIF2B4)	ENSP00000479991.1:n.*633A>T
NM_001034116.1:c.1367A>T (EIF2B4)	NP_001029288.1:p.Glu456Val
NM_015636.3:c.1364A>T (EIF2B4)	NP_056451.3:p.Glu455Val
NM_172195.3:c.1427A>T (EIF2B4)	NP_751945.2:p.Glu476Val
XM_005264632.1:c.1322A>T (EIF2B4)	XP_005264689.1:p.Glu441Val
XM_006712132.1:c.1319A>T (EIF2B4)	XP_006712195.1:p.Glu440Val
XM_011533147.1:c.749A>T (EIF2B4)	XP_011531449.1:p.Glu250Val
XR_939868.1:n.1772-2701T>A (GTF3C2-AS2)
NM_001318965.1:c.1430A>T (EIF2B4)	NP_001305894.1:p.Glu477Val
NM_001318966.1:c.1322A>T (EIF2B4)	NP_001305895.1:p.Glu441Val
NM_001318967.1:c.1274A>T (EIF2B4)	NP_001305896.1:p.Glu425Val
NM_001318968.1:c.782A>T (EIF2B4)	NP_001305897.1:p.Glu261Val
NM_001318969.1:c.749A>T (EIF2B4)	NP_001305898.1:p.Glu250Val
XM_011533147.2:c.749A>T (EIF2B4)	XP_011531449.1:p.Glu250Val
NM_001034116.2:c.1367A>T (EIF2B4) MANE Select	NP_001029288.1:p.Glu456Val
NM_001318965.2:c.1430A>T (EIF2B4)	NP_001305894.1:p.Glu477Val
NM_001318966.2:c.1322A>T (EIF2B4)	NP_001305895.1:p.Glu441Val
NM_001318967.2:c.1274A>T (EIF2B4)	NP_001305896.1:p.Glu425Val
NM_001318968.2:c.782A>T (EIF2B4)	NP_001305897.1:p.Glu261Val
NM_001318969.2:c.749A>T (EIF2B4)	NP_001305898.1:p.Glu250Val
NM_015636.4:c.1364A>T (EIF2B4)	NP_056451.3:p.Glu455Val
NM_172195.4:c.1427A>T (EIF2B4)	NP_751945.2:p.Glu476Val