Canonical Allele Identifier: CA1240245820

Gene: EIF2B4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367798G= , CM000664.2:g.27367798G=	GRCh38
NC_000002.11:g.27590665G= , CM000664.1:g.27590665G=	GRCh37
NC_000002.10:g.27444169G=	NCBI36
NG_009305.1:g.7660C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.730C= MANE Select	ENSP00000233552.6:p.Pro244=
ENST00000347454.8:c.730C=	ENSP00000233552.5:p.Pro244=
ENST00000405940.6:c.704C=	ENSP00000384375.2:p.Ala235=
ENST00000417567.1:c.306C=
ENST00000445933.6:c.727C=	ENSP00000394397.2:p.Pro243=
ENST00000451130.6:c.790C=	ENSP00000394869.2:p.Pro264=
ENST00000475582.5:n.2053C=
ENST00000493344.6:c.793C=	ENSP00000429323.1:p.Pro265=
ENST00000616081.4:c.721C=	ENSP00000477710.1:p.Pro241=
ENST00000622434.4:c.683C=	ENSP00000479991.1:p.Ala228=
NM_001034116.1:c.730C=	NP_001029288.1:p.Pro244=
NM_015636.3:c.727C=	NP_056451.3:p.Pro243=
NM_172195.3:c.790C=	NP_751945.2:p.Pro264=
XM_005264632.1:c.685C=	XP_005264689.1:p.Pro229=
XM_006712132.1:c.682C=	XP_006712195.1:p.Pro228=
XM_011533147.1:c.112C=	XP_011531449.1:p.Pro38=
NM_001318965.1:c.793C=	NP_001305894.1:p.Pro265=
NM_001318966.1:c.685C=	NP_001305895.1:p.Pro229=
NM_001318967.1:c.637C=	NP_001305896.1:p.Pro213=
NM_001318968.1:c.145C=	NP_001305897.1:p.Pro49=
NM_001318969.1:c.112C=	NP_001305898.1:p.Pro38=
XM_011533147.2:c.112C=	XP_011531449.1:p.Pro38=
NM_001034116.2:c.730C= MANE Select	NP_001029288.1:p.Pro244=
NM_001318965.2:c.793C=	NP_001305894.1:p.Pro265=
NM_001318966.2:c.685C=	NP_001305895.1:p.Pro229=
NM_001318967.2:c.637C=	NP_001305896.1:p.Pro213=
NM_001318968.2:c.145C=	NP_001305897.1:p.Pro49=
NM_001318969.2:c.112C=	NP_001305898.1:p.Pro38=
NM_015636.4:c.727C=	NP_056451.3:p.Pro243=
NM_172195.4:c.790C=	NP_751945.2:p.Pro264=