Canonical Allele Identifier: CA346196783

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587453A>T (hg19) ; chr2:g.27364586A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364586A>T , CM000664.2:g.27364586A>T	GRCh38
NC_000002.11:g.27587453A>T , CM000664.1:g.27587453A>T	GRCh37
NC_000002.10:g.27440957A>T	NCBI36
NG_009305.1:g.10872T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1386T>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Asp462Glu
ENST00000347454.8:c.1386T>A (EIF2B4)	ENSP00000233552.5:p.Asp462Glu
ENST00000405940.6:c.*652T>A (EIF2B4)	ENSP00000384375.2:n.*652T>A
ENST00000445933.6:c.1383T>A (EIF2B4)	ENSP00000394397.2:p.Asp461Glu
ENST00000451130.6:c.1446T>A (EIF2B4)	ENSP00000394869.2:p.Asp482Glu
ENST00000478311.1:n.379T>A (EIF2B4)
ENST00000493344.6:c.1449T>A (EIF2B4)	ENSP00000429323.1:p.Asp483Glu
ENST00000616081.4:c.1377T>A (EIF2B4)	ENSP00000477710.1:p.Asp459Glu
ENST00000622434.4:c.*652T>A (EIF2B4)	ENSP00000479991.1:n.*652T>A
NM_001034116.1:c.1386T>A (EIF2B4)	NP_001029288.1:p.Asp462Glu
NM_015636.3:c.1383T>A (EIF2B4)	NP_056451.3:p.Asp461Glu
NM_172195.3:c.1446T>A (EIF2B4)	NP_751945.2:p.Asp482Glu
XM_005264632.1:c.1341T>A (EIF2B4)	XP_005264689.1:p.Asp447Glu
XM_006712132.1:c.1338T>A (EIF2B4)	XP_006712195.1:p.Asp446Glu
XM_011533147.1:c.768T>A (EIF2B4)	XP_011531449.1:p.Asp256Glu
XR_939868.1:n.1772-2838A>T (GTF3C2-AS2)
NM_001318965.1:c.1449T>A (EIF2B4)	NP_001305894.1:p.Asp483Glu
NM_001318966.1:c.1341T>A (EIF2B4)	NP_001305895.1:p.Asp447Glu
NM_001318967.1:c.1293T>A (EIF2B4)	NP_001305896.1:p.Asp431Glu
NM_001318968.1:c.801T>A (EIF2B4)	NP_001305897.1:p.Asp267Glu
NM_001318969.1:c.768T>A (EIF2B4)	NP_001305898.1:p.Asp256Glu
XM_011533147.2:c.768T>A (EIF2B4)	XP_011531449.1:p.Asp256Glu
NM_001034116.2:c.1386T>A (EIF2B4) MANE Select	NP_001029288.1:p.Asp462Glu
NM_001318965.2:c.1449T>A (EIF2B4)	NP_001305894.1:p.Asp483Glu
NM_001318966.2:c.1341T>A (EIF2B4)	NP_001305895.1:p.Asp447Glu
NM_001318967.2:c.1293T>A (EIF2B4)	NP_001305896.1:p.Asp431Glu
NM_001318968.2:c.801T>A (EIF2B4)	NP_001305897.1:p.Asp267Glu
NM_001318969.2:c.768T>A (EIF2B4)	NP_001305898.1:p.Asp256Glu
NM_015636.4:c.1383T>A (EIF2B4)	NP_056451.3:p.Asp461Glu
NM_172195.4:c.1446T>A (EIF2B4)	NP_751945.2:p.Asp482Glu