Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364860G= , CM000664.2:g.27364860G=	GRCh38
NC_000002.11:g.27587727G= , CM000664.1:g.27587727G=	GRCh37
NC_000002.10:g.27441231G=	NCBI36
NG_009305.1:g.10598C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1230C= (EIF2B4) MANE Select	ENSP00000233552.6:p.Ala410=
ENST00000347454.8:c.1230C= (EIF2B4)	ENSP00000233552.5:p.Ala410=
ENST00000405940.6:c.*496C= (EIF2B4)	ENSP00000384375.2:n.*496C=
ENST00000445933.6:c.1227C= (EIF2B4)	ENSP00000394397.2:p.Ala409=
ENST00000451130.6:c.1290C= (EIF2B4)	ENSP00000394869.2:p.Ala430=
ENST00000478311.1:n.223C= (EIF2B4)
ENST00000493344.6:c.1293C= (EIF2B4)	ENSP00000429323.1:p.Ala431=
ENST00000616081.4:c.1221C= (EIF2B4)	ENSP00000477710.1:p.Ala407=
ENST00000622434.4:c.*496C= (EIF2B4)	ENSP00000479991.1:n.*496C=
NM_001034116.1:c.1230C= (EIF2B4)	NP_001029288.1:p.Ala410=
NM_015636.3:c.1227C= (EIF2B4)	NP_056451.3:p.Ala409=
NM_172195.3:c.1290C= (EIF2B4)	NP_751945.2:p.Ala430=
XM_005264632.1:c.1185C= (EIF2B4)	XP_005264689.1:p.Ala395=
XM_006712132.1:c.1182C= (EIF2B4)	XP_006712195.1:p.Ala394=
XM_011533147.1:c.612C= (EIF2B4)	XP_011531449.1:p.Ala204=
XR_939868.1:n.1772-2564G= (GTF3C2-AS2)
NM_001318965.1:c.1293C= (EIF2B4)	NP_001305894.1:p.Ala431=
NM_001318966.1:c.1185C= (EIF2B4)	NP_001305895.1:p.Ala395=
NM_001318967.1:c.1137C= (EIF2B4)	NP_001305896.1:p.Ala379=
NM_001318968.1:c.645C= (EIF2B4)	NP_001305897.1:p.Ala215=
NM_001318969.1:c.612C= (EIF2B4)	NP_001305898.1:p.Ala204=
XM_011533147.2:c.612C= (EIF2B4)	XP_011531449.1:p.Ala204=
NM_001034116.2:c.1230C= (EIF2B4) MANE Select	NP_001029288.1:p.Ala410=
NM_001318965.2:c.1293C= (EIF2B4)	NP_001305894.1:p.Ala431=
NM_001318966.2:c.1185C= (EIF2B4)	NP_001305895.1:p.Ala395=
NM_001318967.2:c.1137C= (EIF2B4)	NP_001305896.1:p.Ala379=
NM_001318968.2:c.645C= (EIF2B4)	NP_001305897.1:p.Ala215=
NM_001318969.2:c.612C= (EIF2B4)	NP_001305898.1:p.Ala204=
NM_015636.4:c.1227C= (EIF2B4)	NP_056451.3:p.Ala409=
NM_172195.4:c.1290C= (EIF2B4)	NP_751945.2:p.Ala430=