Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364787G= , CM000664.2:g.27364787G=	GRCh38
NC_000002.11:g.27587654G= , CM000664.1:g.27587654G=	GRCh37
NC_000002.10:g.27441158G=	NCBI36
NG_009305.1:g.10671C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1303C= (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu435=
ENST00000347454.8:c.1303C= (EIF2B4)	ENSP00000233552.5:p.Leu435=
ENST00000405940.6:c.*569C= (EIF2B4)	ENSP00000384375.2:n.*569C=
ENST00000445933.6:c.1300C= (EIF2B4)	ENSP00000394397.2:p.Leu434=
ENST00000451130.6:c.1363C= (EIF2B4)	ENSP00000394869.2:p.Leu455=
ENST00000478311.1:n.296C= (EIF2B4)
ENST00000493344.6:c.1366C= (EIF2B4)	ENSP00000429323.1:p.Leu456=
ENST00000616081.4:c.1294C= (EIF2B4)	ENSP00000477710.1:p.Leu432=
ENST00000622434.4:c.*569C= (EIF2B4)	ENSP00000479991.1:n.*569C=
NM_001034116.1:c.1303C= (EIF2B4)	NP_001029288.1:p.Leu435=
NM_015636.3:c.1300C= (EIF2B4)	NP_056451.3:p.Leu434=
NM_172195.3:c.1363C= (EIF2B4)	NP_751945.2:p.Leu455=
XM_005264632.1:c.1258C= (EIF2B4)	XP_005264689.1:p.Leu420=
XM_006712132.1:c.1255C= (EIF2B4)	XP_006712195.1:p.Leu419=
XM_011533147.1:c.685C= (EIF2B4)	XP_011531449.1:p.Leu229=
XR_939868.1:n.1772-2637G= (GTF3C2-AS2)
NM_001318965.1:c.1366C= (EIF2B4)	NP_001305894.1:p.Leu456=
NM_001318966.1:c.1258C= (EIF2B4)	NP_001305895.1:p.Leu420=
NM_001318967.1:c.1210C= (EIF2B4)	NP_001305896.1:p.Leu404=
NM_001318968.1:c.718C= (EIF2B4)	NP_001305897.1:p.Leu240=
NM_001318969.1:c.685C= (EIF2B4)	NP_001305898.1:p.Leu229=
XM_011533147.2:c.685C= (EIF2B4)	XP_011531449.1:p.Leu229=
NM_001034116.2:c.1303C= (EIF2B4) MANE Select	NP_001029288.1:p.Leu435=
NM_001318965.2:c.1366C= (EIF2B4)	NP_001305894.1:p.Leu456=
NM_001318966.2:c.1258C= (EIF2B4)	NP_001305895.1:p.Leu420=
NM_001318967.2:c.1210C= (EIF2B4)	NP_001305896.1:p.Leu404=
NM_001318968.2:c.718C= (EIF2B4)	NP_001305897.1:p.Leu240=
NM_001318969.2:c.685C= (EIF2B4)	NP_001305898.1:p.Leu229=
NM_015636.4:c.1300C= (EIF2B4)	NP_056451.3:p.Leu434=
NM_172195.4:c.1363C= (EIF2B4)	NP_751945.2:p.Leu455=