Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364870G= , CM000664.2:g.27364870G=	GRCh38
NC_000002.11:g.27587737G= , CM000664.1:g.27587737G=	GRCh37
NC_000002.10:g.27441241G=	NCBI36
NG_009305.1:g.10588C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1220C= (EIF2B4) MANE Select	ENSP00000233552.6:p.Ala407=
ENST00000347454.8:c.1220C= (EIF2B4)	ENSP00000233552.5:p.Ala407=
ENST00000405940.6:c.*486C= (EIF2B4)	ENSP00000384375.2:n.*486C=
ENST00000445933.6:c.1217C= (EIF2B4)	ENSP00000394397.2:p.Ala406=
ENST00000451130.6:c.1280C= (EIF2B4)	ENSP00000394869.2:p.Ala427=
ENST00000478311.1:n.213C= (EIF2B4)
ENST00000493344.6:c.1283C= (EIF2B4)	ENSP00000429323.1:p.Ala428=
ENST00000616081.4:c.1211C= (EIF2B4)	ENSP00000477710.1:p.Ala404=
ENST00000622434.4:c.*486C= (EIF2B4)	ENSP00000479991.1:n.*486C=
NM_001034116.1:c.1220C= (EIF2B4)	NP_001029288.1:p.Ala407=
NM_015636.3:c.1217C= (EIF2B4)	NP_056451.3:p.Ala406=
NM_172195.3:c.1280C= (EIF2B4)	NP_751945.2:p.Ala427=
XM_005264632.1:c.1175C= (EIF2B4)	XP_005264689.1:p.Ala392=
XM_006712132.1:c.1172C= (EIF2B4)	XP_006712195.1:p.Ala391=
XM_011533147.1:c.602C= (EIF2B4)	XP_011531449.1:p.Ala201=
XR_939868.1:n.1772-2554G= (GTF3C2-AS2)
NM_001318965.1:c.1283C= (EIF2B4)	NP_001305894.1:p.Ala428=
NM_001318966.1:c.1175C= (EIF2B4)	NP_001305895.1:p.Ala392=
NM_001318967.1:c.1127C= (EIF2B4)	NP_001305896.1:p.Ala376=
NM_001318968.1:c.635C= (EIF2B4)	NP_001305897.1:p.Ala212=
NM_001318969.1:c.602C= (EIF2B4)	NP_001305898.1:p.Ala201=
XM_011533147.2:c.602C= (EIF2B4)	XP_011531449.1:p.Ala201=
NM_001034116.2:c.1220C= (EIF2B4) MANE Select	NP_001029288.1:p.Ala407=
NM_001318965.2:c.1283C= (EIF2B4)	NP_001305894.1:p.Ala428=
NM_001318966.2:c.1175C= (EIF2B4)	NP_001305895.1:p.Ala392=
NM_001318967.2:c.1127C= (EIF2B4)	NP_001305896.1:p.Ala376=
NM_001318968.2:c.635C= (EIF2B4)	NP_001305897.1:p.Ala212=
NM_001318969.2:c.602C= (EIF2B4)	NP_001305898.1:p.Ala201=
NM_015636.4:c.1217C= (EIF2B4)	NP_056451.3:p.Ala406=
NM_172195.4:c.1280C= (EIF2B4)	NP_751945.2:p.Ala427=