Canonical Allele Identifier: CA346199866

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590678A>T (hg19) ; chr2:g.27367811A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367811A>T , CM000664.2:g.27367811A>T	GRCh38
NC_000002.11:g.27590678A>T , CM000664.1:g.27590678A>T	GRCh37
NC_000002.10:g.27444182A>T	NCBI36
NG_009305.1:g.7647T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.717T>A MANE Select	ENSP00000233552.6:p.Asp239Glu
ENST00000347454.8:c.717T>A	ENSP00000233552.5:p.Asp239Glu
ENST00000405940.6:c.691T>A	ENSP00000384375.2:p.Leu231Ile
ENST00000417567.1:c.293T>A
ENST00000445933.6:c.714T>A	ENSP00000394397.2:p.Asp238Glu
ENST00000451130.6:c.777T>A	ENSP00000394869.2:p.Asp259Glu
ENST00000475582.5:n.2040T>A
ENST00000493344.6:c.780T>A	ENSP00000429323.1:p.Asp260Glu
ENST00000616081.4:c.708T>A	ENSP00000477710.1:p.Asp236Glu
ENST00000622434.4:c.672T>A	ENSP00000479991.1:p.Asp224Glu
NM_001034116.1:c.717T>A	NP_001029288.1:p.Asp239Glu
NM_015636.3:c.714T>A	NP_056451.3:p.Asp238Glu
NM_172195.3:c.777T>A	NP_751945.2:p.Asp259Glu
XM_005264632.1:c.672T>A	XP_005264689.1:p.Asp224Glu
XM_006712132.1:c.669T>A	XP_006712195.1:p.Asp223Glu
XM_011533147.1:c.99T>A	XP_011531449.1:p.Asp33Glu
NM_001318965.1:c.780T>A	NP_001305894.1:p.Asp260Glu
NM_001318966.1:c.672T>A	NP_001305895.1:p.Asp224Glu
NM_001318967.1:c.624T>A	NP_001305896.1:p.Asp208Glu
NM_001318968.1:c.132T>A	NP_001305897.1:p.Asp44Glu
NM_001318969.1:c.99T>A	NP_001305898.1:p.Asp33Glu
XM_011533147.2:c.99T>A	XP_011531449.1:p.Asp33Glu
NM_001034116.2:c.717T>A MANE Select	NP_001029288.1:p.Asp239Glu
NM_001318965.2:c.780T>A	NP_001305894.1:p.Asp260Glu
NM_001318966.2:c.672T>A	NP_001305895.1:p.Asp224Glu
NM_001318967.2:c.624T>A	NP_001305896.1:p.Asp208Glu
NM_001318968.2:c.132T>A	NP_001305897.1:p.Asp44Glu
NM_001318969.2:c.99T>A	NP_001305898.1:p.Asp33Glu
NM_015636.4:c.714T>A	NP_056451.3:p.Asp238Glu
NM_172195.4:c.777T>A	NP_751945.2:p.Asp259Glu