Canonical Allele Identifier: CA346197465

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27589633A>T (hg19) ; chr2:g.27366766A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366766A>T , CM000664.2:g.27366766A>T	GRCh38
NC_000002.11:g.27589633A>T , CM000664.1:g.27589633A>T	GRCh37
NC_000002.10:g.27443137A>T	NCBI36
NG_009305.1:g.8692T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1184T>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu395His
ENST00000347454.8:c.1184T>A (EIF2B4)	ENSP00000233552.5:p.Leu395His
ENST00000405940.6:c.*450T>A (EIF2B4)	ENSP00000384375.2:n.*450T>A
ENST00000417567.1:c.758T>A (EIF2B4)
ENST00000445933.6:c.1181T>A (EIF2B4)	ENSP00000394397.2:p.Leu394His
ENST00000451130.6:c.1244T>A (EIF2B4)	ENSP00000394869.2:p.Leu415His
ENST00000475582.5:n.3085T>A (EIF2B4)
ENST00000493344.6:c.1247T>A (EIF2B4)	ENSP00000429323.1:p.Leu416His
ENST00000616081.4:c.1175T>A (EIF2B4)	ENSP00000477710.1:p.Leu392His
ENST00000622434.4:c.*450T>A (EIF2B4)	ENSP00000479991.1:n.*450T>A
NM_001034116.1:c.1184T>A (EIF2B4)	NP_001029288.1:p.Leu395His
NM_015636.3:c.1181T>A (EIF2B4)	NP_056451.3:p.Leu394His
NM_172195.3:c.1244T>A (EIF2B4)	NP_751945.2:p.Leu415His
XM_005264632.1:c.1139T>A (EIF2B4)	XP_005264689.1:p.Leu380His
XM_006712132.1:c.1136T>A (EIF2B4)	XP_006712195.1:p.Leu379His
XM_011533147.1:c.566T>A (EIF2B4)	XP_011531449.1:p.Leu189His
XR_939868.1:n.1772-658A>T (GTF3C2-AS2)
NM_001318965.1:c.1247T>A (EIF2B4)	NP_001305894.1:p.Leu416His
NM_001318966.1:c.1139T>A (EIF2B4)	NP_001305895.1:p.Leu380His
NM_001318967.1:c.1091T>A (EIF2B4)	NP_001305896.1:p.Leu364His
NM_001318968.1:c.599T>A (EIF2B4)	NP_001305897.1:p.Leu200His
NM_001318969.1:c.566T>A (EIF2B4)	NP_001305898.1:p.Leu189His
XM_011533147.2:c.566T>A (EIF2B4)	XP_011531449.1:p.Leu189His
NM_001034116.2:c.1184T>A (EIF2B4) MANE Select	NP_001029288.1:p.Leu395His
NM_001318965.2:c.1247T>A (EIF2B4)	NP_001305894.1:p.Leu416His
NM_001318966.2:c.1139T>A (EIF2B4)	NP_001305895.1:p.Leu380His
NM_001318967.2:c.1091T>A (EIF2B4)	NP_001305896.1:p.Leu364His
NM_001318968.2:c.599T>A (EIF2B4)	NP_001305897.1:p.Leu200His
NM_001318969.2:c.566T>A (EIF2B4)	NP_001305898.1:p.Leu189His
NM_015636.4:c.1181T>A (EIF2B4)	NP_056451.3:p.Leu394His
NM_172195.4:c.1244T>A (EIF2B4)	NP_751945.2:p.Leu415His