Canonical Allele Identifier: CA346199425

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590425A>T (hg19) ; chr2:g.27367558A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367558A>T , CM000664.2:g.27367558A>T	GRCh38
NC_000002.11:g.27590425A>T , CM000664.1:g.27590425A>T	GRCh37
NC_000002.10:g.27443929A>T	NCBI36
NG_009305.1:g.7900T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.784T>A MANE Select	ENSP00000233552.6:p.Phe262Ile
ENST00000347454.8:c.784T>A	ENSP00000233552.5:p.Phe262Ile
ENST00000405940.6:c.*50T>A	ENSP00000384375.2:n.*50T>A
ENST00000417567.1:c.360T>A
ENST00000445933.6:c.781T>A	ENSP00000394397.2:p.Phe261Ile
ENST00000451130.6:c.844T>A	ENSP00000394869.2:p.Phe282Ile
ENST00000475582.5:n.2293T>A
ENST00000493344.6:c.847T>A	ENSP00000429323.1:p.Phe283Ile
ENST00000616081.4:c.775T>A	ENSP00000477710.1:p.Phe259Ile
ENST00000622434.4:c.*50T>A	ENSP00000479991.1:n.*50T>A
NM_001034116.1:c.784T>A	NP_001029288.1:p.Phe262Ile
NM_015636.3:c.781T>A	NP_056451.3:p.Phe261Ile
NM_172195.3:c.844T>A	NP_751945.2:p.Phe282Ile
XM_005264632.1:c.739T>A	XP_005264689.1:p.Phe247Ile
XM_006712132.1:c.736T>A	XP_006712195.1:p.Phe246Ile
XM_011533147.1:c.166T>A	XP_011531449.1:p.Phe56Ile
NM_001318965.1:c.847T>A	NP_001305894.1:p.Phe283Ile
NM_001318966.1:c.739T>A	NP_001305895.1:p.Phe247Ile
NM_001318967.1:c.691T>A	NP_001305896.1:p.Phe231Ile
NM_001318968.1:c.199T>A	NP_001305897.1:p.Phe67Ile
NM_001318969.1:c.166T>A	NP_001305898.1:p.Phe56Ile
XM_011533147.2:c.166T>A	XP_011531449.1:p.Phe56Ile
NM_001034116.2:c.784T>A MANE Select	NP_001029288.1:p.Phe262Ile
NM_001318965.2:c.847T>A	NP_001305894.1:p.Phe283Ile
NM_001318966.2:c.739T>A	NP_001305895.1:p.Phe247Ile
NM_001318967.2:c.691T>A	NP_001305896.1:p.Phe231Ile
NM_001318968.2:c.199T>A	NP_001305897.1:p.Phe67Ile
NM_001318969.2:c.166T>A	NP_001305898.1:p.Phe56Ile
NM_015636.4:c.781T>A	NP_056451.3:p.Phe261Ile
NM_172195.4:c.844T>A	NP_751945.2:p.Phe282Ile