Canonical Allele Identifier: CA346199735

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590658T>A (hg19) ; chr2:g.27367791T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367791T>A , CM000664.2:g.27367791T>A	GRCh38
NC_000002.11:g.27590658T>A , CM000664.1:g.27590658T>A	GRCh37
NC_000002.10:g.27444162T>A	NCBI36
NG_009305.1:g.7667A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.737A>T MANE Select	ENSP00000233552.6:p.Glu246Val
ENST00000347454.8:c.737A>T	ENSP00000233552.5:p.Glu246Val
ENST00000405940.6:c.*3A>T	ENSP00000384375.2:n.*3A>T
ENST00000417567.1:c.313A>T
ENST00000445933.6:c.734A>T	ENSP00000394397.2:p.Glu245Val
ENST00000451130.6:c.797A>T	ENSP00000394869.2:p.Glu266Val
ENST00000475582.5:n.2060A>T
ENST00000493344.6:c.800A>T	ENSP00000429323.1:p.Glu267Val
ENST00000616081.4:c.728A>T	ENSP00000477710.1:p.Glu243Val
ENST00000622434.4:c.*3A>T	ENSP00000479991.1:n.*3A>T
NM_001034116.1:c.737A>T	NP_001029288.1:p.Glu246Val
NM_015636.3:c.734A>T	NP_056451.3:p.Glu245Val
NM_172195.3:c.797A>T	NP_751945.2:p.Glu266Val
XM_005264632.1:c.692A>T	XP_005264689.1:p.Glu231Val
XM_006712132.1:c.689A>T	XP_006712195.1:p.Glu230Val
XM_011533147.1:c.119A>T	XP_011531449.1:p.Glu40Val
NM_001318965.1:c.800A>T	NP_001305894.1:p.Glu267Val
NM_001318966.1:c.692A>T	NP_001305895.1:p.Glu231Val
NM_001318967.1:c.644A>T	NP_001305896.1:p.Glu215Val
NM_001318968.1:c.152A>T	NP_001305897.1:p.Glu51Val
NM_001318969.1:c.119A>T	NP_001305898.1:p.Glu40Val
XM_011533147.2:c.119A>T	XP_011531449.1:p.Glu40Val
NM_001034116.2:c.737A>T MANE Select	NP_001029288.1:p.Glu246Val
NM_001318965.2:c.800A>T	NP_001305894.1:p.Glu267Val
NM_001318966.2:c.692A>T	NP_001305895.1:p.Glu231Val
NM_001318967.2:c.644A>T	NP_001305896.1:p.Glu215Val
NM_001318968.2:c.152A>T	NP_001305897.1:p.Glu51Val
NM_001318969.2:c.119A>T	NP_001305898.1:p.Glu40Val
NM_015636.4:c.734A>T	NP_056451.3:p.Glu245Val
NM_172195.4:c.797A>T	NP_751945.2:p.Glu266Val