Canonical Allele Identifier: CA425410910

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590408A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367541A>T , CM000664.2:g.27367541A>T	GRCh38
NC_000002.11:g.27590408A>T , CM000664.1:g.27590408A>T	GRCh37
NC_000002.10:g.27443912A>T	NCBI36
NG_009305.1:g.7917T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.801T>A MANE Select	ENSP00000233552.6:p.Arg267=
ENST00000347454.8:c.801T>A	ENSP00000233552.5:p.Arg267=
ENST00000405940.6:c.*67T>A	ENSP00000384375.2:n.*67T>A
ENST00000417567.1:c.377T>A
ENST00000445933.6:c.798T>A	ENSP00000394397.2:p.Arg266=
ENST00000451130.6:c.861T>A	ENSP00000394869.2:p.Arg287=
ENST00000475582.5:n.2310T>A
ENST00000493344.6:c.864T>A	ENSP00000429323.1:p.Arg288=
ENST00000616081.4:c.792T>A	ENSP00000477710.1:p.Arg264=
ENST00000622434.4:c.*67T>A	ENSP00000479991.1:n.*67T>A
NM_001034116.1:c.801T>A	NP_001029288.1:p.Arg267=
NM_015636.3:c.798T>A	NP_056451.3:p.Arg266=
NM_172195.3:c.861T>A	NP_751945.2:p.Arg287=
XM_005264632.1:c.756T>A	XP_005264689.1:p.Arg252=
XM_006712132.1:c.753T>A	XP_006712195.1:p.Arg251=
XM_011533147.1:c.183T>A	XP_011531449.1:p.Arg61=
NM_001318965.1:c.864T>A	NP_001305894.1:p.Arg288=
NM_001318966.1:c.756T>A	NP_001305895.1:p.Arg252=
NM_001318967.1:c.708T>A	NP_001305896.1:p.Arg236=
NM_001318968.1:c.216T>A	NP_001305897.1:p.Arg72=
NM_001318969.1:c.183T>A	NP_001305898.1:p.Arg61=
XM_011533147.2:c.183T>A	XP_011531449.1:p.Arg61=
NM_001034116.2:c.801T>A MANE Select	NP_001029288.1:p.Arg267=
NM_001318965.2:c.864T>A	NP_001305894.1:p.Arg288=
NM_001318966.2:c.756T>A	NP_001305895.1:p.Arg252=
NM_001318967.2:c.708T>A	NP_001305896.1:p.Arg236=
NM_001318968.2:c.216T>A	NP_001305897.1:p.Arg72=
NM_001318969.2:c.183T>A	NP_001305898.1:p.Arg61=
NM_015636.4:c.798T>A	NP_056451.3:p.Arg266=
NM_172195.4:c.861T>A	NP_751945.2:p.Arg287=