Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364833C= , CM000664.2:g.27364833C=	GRCh38
NC_000002.11:g.27587700C= , CM000664.1:g.27587700C=	GRCh37
NC_000002.10:g.27441204C=	NCBI36
NG_009305.1:g.10625G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1257G= (EIF2B4) MANE Select	ENSP00000233552.6:p.Gly419=
ENST00000347454.8:c.1257G= (EIF2B4)	ENSP00000233552.5:p.Gly419=
ENST00000405940.6:c.*523G= (EIF2B4)	ENSP00000384375.2:n.*523G=
ENST00000445933.6:c.1254G= (EIF2B4)	ENSP00000394397.2:p.Gly418=
ENST00000451130.6:c.1317G= (EIF2B4)	ENSP00000394869.2:p.Gly439=
ENST00000478311.1:n.250G= (EIF2B4)
ENST00000493344.6:c.1320G= (EIF2B4)	ENSP00000429323.1:p.Gly440=
ENST00000616081.4:c.1248G= (EIF2B4)	ENSP00000477710.1:p.Gly416=
ENST00000622434.4:c.*523G= (EIF2B4)	ENSP00000479991.1:n.*523G=
NM_001034116.1:c.1257G= (EIF2B4)	NP_001029288.1:p.Gly419=
NM_015636.3:c.1254G= (EIF2B4)	NP_056451.3:p.Gly418=
NM_172195.3:c.1317G= (EIF2B4)	NP_751945.2:p.Gly439=
XM_005264632.1:c.1212G= (EIF2B4)	XP_005264689.1:p.Gly404=
XM_006712132.1:c.1209G= (EIF2B4)	XP_006712195.1:p.Gly403=
XM_011533147.1:c.639G= (EIF2B4)	XP_011531449.1:p.Gly213=
XR_939868.1:n.1772-2591C= (GTF3C2-AS2)
NM_001318965.1:c.1320G= (EIF2B4)	NP_001305894.1:p.Gly440=
NM_001318966.1:c.1212G= (EIF2B4)	NP_001305895.1:p.Gly404=
NM_001318967.1:c.1164G= (EIF2B4)	NP_001305896.1:p.Gly388=
NM_001318968.1:c.672G= (EIF2B4)	NP_001305897.1:p.Gly224=
NM_001318969.1:c.639G= (EIF2B4)	NP_001305898.1:p.Gly213=
XM_011533147.2:c.639G= (EIF2B4)	XP_011531449.1:p.Gly213=
NM_001034116.2:c.1257G= (EIF2B4) MANE Select	NP_001029288.1:p.Gly419=
NM_001318965.2:c.1320G= (EIF2B4)	NP_001305894.1:p.Gly440=
NM_001318966.2:c.1212G= (EIF2B4)	NP_001305895.1:p.Gly404=
NM_001318967.2:c.1164G= (EIF2B4)	NP_001305896.1:p.Gly388=
NM_001318968.2:c.672G= (EIF2B4)	NP_001305897.1:p.Gly224=
NM_001318969.2:c.639G= (EIF2B4)	NP_001305898.1:p.Gly213=
NM_015636.4:c.1254G= (EIF2B4)	NP_056451.3:p.Gly418=
NM_172195.4:c.1317G= (EIF2B4)	NP_751945.2:p.Gly439=