Canonical Allele Identifier: CA1240246121

Gene: EIF2B4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27368059G= , CM000664.2:g.27368059G=	GRCh38
NC_000002.11:g.27590926G= , CM000664.1:g.27590926G=	GRCh37
NC_000002.10:g.27444430G=	NCBI36
NG_009305.1:g.7399C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.671C= MANE Select	ENSP00000233552.6:p.Ala224=
ENST00000347454.8:c.671C=	ENSP00000233552.5:p.Ala224=
ENST00000405940.6:c.645C=	ENSP00000384375.2:p.Cys215=
ENST00000417567.1:c.247C=
ENST00000445933.6:c.668C=	ENSP00000394397.2:p.Ala223=
ENST00000451130.6:c.731C=	ENSP00000394869.2:p.Ala244=
ENST00000475582.5:n.1792C=
ENST00000493344.6:c.734C=	ENSP00000429323.1:p.Ala245=
ENST00000616081.4:c.662C=	ENSP00000477710.1:p.Ala221=
ENST00000622434.4:c.626C=	ENSP00000479991.1:p.Ala209=
NM_001034116.1:c.671C=	NP_001029288.1:p.Ala224=
NM_015636.3:c.668C=	NP_056451.3:p.Ala223=
NM_172195.3:c.731C=	NP_751945.2:p.Ala244=
XM_005264632.1:c.626C=	XP_005264689.1:p.Ala209=
XM_006712132.1:c.623C=	XP_006712195.1:p.Ala208=
XM_011533147.1:c.53C=	XP_011531449.1:p.Ala18=
NM_001318965.1:c.734C=	NP_001305894.1:p.Ala245=
NM_001318966.1:c.626C=	NP_001305895.1:p.Ala209=
NM_001318967.1:c.578C=	NP_001305896.1:p.Ala193=
NM_001318968.1:c.86C=	NP_001305897.1:p.Ala29=
NM_001318969.1:c.53C=	NP_001305898.1:p.Ala18=
XM_011533147.2:c.53C=	XP_011531449.1:p.Ala18=
NM_001034116.2:c.671C= MANE Select	NP_001029288.1:p.Ala224=
NM_001318965.2:c.734C=	NP_001305894.1:p.Ala245=
NM_001318966.2:c.626C=	NP_001305895.1:p.Ala209=
NM_001318967.2:c.578C=	NP_001305896.1:p.Ala193=
NM_001318968.2:c.86C=	NP_001305897.1:p.Ala29=
NM_001318969.2:c.53C=	NP_001305898.1:p.Ala18=
NM_015636.4:c.668C=	NP_056451.3:p.Ala223=
NM_172195.4:c.731C=	NP_751945.2:p.Ala244=