Canonical Allele Identifier: CA1240245500

Gene: EIF2B4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367540G= , CM000664.2:g.27367540G=	GRCh38
NC_000002.11:g.27590407G= , CM000664.1:g.27590407G=	GRCh37
NC_000002.10:g.27443911G=	NCBI36
NG_009305.1:g.7918C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.802C= MANE Select	ENSP00000233552.6:p.Pro268=
ENST00000347454.8:c.802C=	ENSP00000233552.5:p.Pro268=
ENST00000405940.6:c.*68C=	ENSP00000384375.2:n.*68C=
ENST00000417567.1:c.378C=
ENST00000445933.6:c.799C=	ENSP00000394397.2:p.Pro267=
ENST00000451130.6:c.862C=	ENSP00000394869.2:p.Pro288=
ENST00000475582.5:n.2311C=
ENST00000493344.6:c.865C=	ENSP00000429323.1:p.Pro289=
ENST00000616081.4:c.793C=	ENSP00000477710.1:p.Pro265=
ENST00000622434.4:c.*68C=	ENSP00000479991.1:n.*68C=
NM_001034116.1:c.802C=	NP_001029288.1:p.Pro268=
NM_015636.3:c.799C=	NP_056451.3:p.Pro267=
NM_172195.3:c.862C=	NP_751945.2:p.Pro288=
XM_005264632.1:c.757C=	XP_005264689.1:p.Pro253=
XM_006712132.1:c.754C=	XP_006712195.1:p.Pro252=
XM_011533147.1:c.184C=	XP_011531449.1:p.Pro62=
NM_001318965.1:c.865C=	NP_001305894.1:p.Pro289=
NM_001318966.1:c.757C=	NP_001305895.1:p.Pro253=
NM_001318967.1:c.709C=	NP_001305896.1:p.Pro237=
NM_001318968.1:c.217C=	NP_001305897.1:p.Pro73=
NM_001318969.1:c.184C=	NP_001305898.1:p.Pro62=
XM_011533147.2:c.184C=	XP_011531449.1:p.Pro62=
NM_001034116.2:c.802C= MANE Select	NP_001029288.1:p.Pro268=
NM_001318965.2:c.865C=	NP_001305894.1:p.Pro289=
NM_001318966.2:c.757C=	NP_001305895.1:p.Pro253=
NM_001318967.2:c.709C=	NP_001305896.1:p.Pro237=
NM_001318968.2:c.217C=	NP_001305897.1:p.Pro73=
NM_001318969.2:c.184C=	NP_001305898.1:p.Pro62=
NM_015636.4:c.799C=	NP_056451.3:p.Pro267=
NM_172195.4:c.862C=	NP_751945.2:p.Pro288=