Canonical Allele Identifier: CA1240245844

Gene: EIF2B4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367804T= , CM000664.2:g.27367804T=	GRCh38
NC_000002.11:g.27590671T= , CM000664.1:g.27590671T=	GRCh37
NC_000002.10:g.27444175T=	NCBI36
NG_009305.1:g.7654A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.724A= MANE Select	ENSP00000233552.6:p.Thr242=
ENST00000347454.8:c.724A=	ENSP00000233552.5:p.Thr242=
ENST00000405940.6:c.698A=	ENSP00000384375.2:p.Asn233=
ENST00000417567.1:c.300A=
ENST00000445933.6:c.721A=	ENSP00000394397.2:p.Thr241=
ENST00000451130.6:c.784A=	ENSP00000394869.2:p.Thr262=
ENST00000475582.5:n.2047A=
ENST00000493344.6:c.787A=	ENSP00000429323.1:p.Thr263=
ENST00000616081.4:c.715A=	ENSP00000477710.1:p.Thr239=
ENST00000622434.4:c.679-2A=	ENSP00000479991.1:n.679-2A=
NM_001034116.1:c.724A=	NP_001029288.1:p.Thr242=
NM_015636.3:c.721A=	NP_056451.3:p.Thr241=
NM_172195.3:c.784A=	NP_751945.2:p.Thr262=
XM_005264632.1:c.679A=	XP_005264689.1:p.Thr227=
XM_006712132.1:c.676A=	XP_006712195.1:p.Thr226=
XM_011533147.1:c.106A=	XP_011531449.1:p.Thr36=
NM_001318965.1:c.787A=	NP_001305894.1:p.Thr263=
NM_001318966.1:c.679A=	NP_001305895.1:p.Thr227=
NM_001318967.1:c.631A=	NP_001305896.1:p.Thr211=
NM_001318968.1:c.139A=	NP_001305897.1:p.Thr47=
NM_001318969.1:c.106A=	NP_001305898.1:p.Thr36=
XM_011533147.2:c.106A=	XP_011531449.1:p.Thr36=
NM_001034116.2:c.724A= MANE Select	NP_001029288.1:p.Thr242=
NM_001318965.2:c.787A=	NP_001305894.1:p.Thr263=
NM_001318966.2:c.679A=	NP_001305895.1:p.Thr227=
NM_001318967.2:c.631A=	NP_001305896.1:p.Thr211=
NM_001318968.2:c.139A=	NP_001305897.1:p.Thr47=
NM_001318969.2:c.106A=	NP_001305898.1:p.Thr36=
NM_015636.4:c.721A=	NP_056451.3:p.Thr241=
NM_172195.4:c.784A=	NP_751945.2:p.Thr262=