Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364891T= , CM000664.2:g.27364891T=	GRCh38
NC_000002.11:g.27587758T= , CM000664.1:g.27587758T=	GRCh37
NC_000002.10:g.27441262T=	NCBI36
NG_009305.1:g.10567A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1199A= (EIF2B4) MANE Select	ENSP00000233552.6:p.Lys400=
ENST00000347454.8:c.1199A= (EIF2B4)	ENSP00000233552.5:p.Lys400=
ENST00000405940.6:c.*465A= (EIF2B4)	ENSP00000384375.2:n.*465A=
ENST00000445933.6:c.1196A= (EIF2B4)	ENSP00000394397.2:p.Lys399=
ENST00000451130.6:c.1259A= (EIF2B4)	ENSP00000394869.2:p.Lys420=
ENST00000478311.1:n.192A= (EIF2B4)
ENST00000493344.6:c.1262A= (EIF2B4)	ENSP00000429323.1:p.Lys421=
ENST00000616081.4:c.1190A= (EIF2B4)	ENSP00000477710.1:p.Lys397=
ENST00000622434.4:c.*465A= (EIF2B4)	ENSP00000479991.1:n.*465A=
NM_001034116.1:c.1199A= (EIF2B4)	NP_001029288.1:p.Lys400=
NM_015636.3:c.1196A= (EIF2B4)	NP_056451.3:p.Lys399=
NM_172195.3:c.1259A= (EIF2B4)	NP_751945.2:p.Lys420=
XM_005264632.1:c.1154A= (EIF2B4)	XP_005264689.1:p.Lys385=
XM_006712132.1:c.1151A= (EIF2B4)	XP_006712195.1:p.Lys384=
XM_011533147.1:c.581A= (EIF2B4)	XP_011531449.1:p.Lys194=
XR_939868.1:n.1772-2533T= (GTF3C2-AS2)
NM_001318965.1:c.1262A= (EIF2B4)	NP_001305894.1:p.Lys421=
NM_001318966.1:c.1154A= (EIF2B4)	NP_001305895.1:p.Lys385=
NM_001318967.1:c.1106A= (EIF2B4)	NP_001305896.1:p.Lys369=
NM_001318968.1:c.614A= (EIF2B4)	NP_001305897.1:p.Lys205=
NM_001318969.1:c.581A= (EIF2B4)	NP_001305898.1:p.Lys194=
XM_011533147.2:c.581A= (EIF2B4)	XP_011531449.1:p.Lys194=
NM_001034116.2:c.1199A= (EIF2B4) MANE Select	NP_001029288.1:p.Lys400=
NM_001318965.2:c.1262A= (EIF2B4)	NP_001305894.1:p.Lys421=
NM_001318966.2:c.1154A= (EIF2B4)	NP_001305895.1:p.Lys385=
NM_001318967.2:c.1106A= (EIF2B4)	NP_001305896.1:p.Lys369=
NM_001318968.2:c.614A= (EIF2B4)	NP_001305897.1:p.Lys205=
NM_001318969.2:c.581A= (EIF2B4)	NP_001305898.1:p.Lys194=
NM_015636.4:c.1196A= (EIF2B4)	NP_056451.3:p.Lys399=
NM_172195.4:c.1259A= (EIF2B4)	NP_751945.2:p.Lys420=