Canonical Allele Identifier: CA346199352

Gene: EIF2B4

Linked Data

• gnomAD v4: 2-27367536-A-T
• MyVariant Identifiers: chr2:g.27590403A>T (hg19) ; chr2:g.27367536A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367536A>T , CM000664.2:g.27367536A>T	GRCh38
NC_000002.11:g.27590403A>T , CM000664.1:g.27590403A>T	GRCh37
NC_000002.10:g.27443907A>T	NCBI36
NG_009305.1:g.7922T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.806T>A MANE Select	ENSP00000233552.6:p.Leu269Gln
ENST00000347454.8:c.806T>A	ENSP00000233552.5:p.Leu269Gln
ENST00000405940.6:c.*72T>A	ENSP00000384375.2:n.*72T>A
ENST00000417567.1:c.382T>A
ENST00000445933.6:c.803T>A	ENSP00000394397.2:p.Leu268Gln
ENST00000451130.6:c.866T>A	ENSP00000394869.2:p.Leu289Gln
ENST00000475582.5:n.2315T>A
ENST00000493344.6:c.869T>A	ENSP00000429323.1:p.Leu290Gln
ENST00000616081.4:c.797T>A	ENSP00000477710.1:p.Leu266Gln
ENST00000622434.4:c.*72T>A	ENSP00000479991.1:n.*72T>A
NM_001034116.1:c.806T>A	NP_001029288.1:p.Leu269Gln
NM_015636.3:c.803T>A	NP_056451.3:p.Leu268Gln
NM_172195.3:c.866T>A	NP_751945.2:p.Leu289Gln
XM_005264632.1:c.761T>A	XP_005264689.1:p.Leu254Gln
XM_006712132.1:c.758T>A	XP_006712195.1:p.Leu253Gln
XM_011533147.1:c.188T>A	XP_011531449.1:p.Leu63Gln
NM_001318965.1:c.869T>A	NP_001305894.1:p.Leu290Gln
NM_001318966.1:c.761T>A	NP_001305895.1:p.Leu254Gln
NM_001318967.1:c.713T>A	NP_001305896.1:p.Leu238Gln
NM_001318968.1:c.221T>A	NP_001305897.1:p.Leu74Gln
NM_001318969.1:c.188T>A	NP_001305898.1:p.Leu63Gln
XM_011533147.2:c.188T>A	XP_011531449.1:p.Leu63Gln
NM_001034116.2:c.806T>A MANE Select	NP_001029288.1:p.Leu269Gln
NM_001318965.2:c.869T>A	NP_001305894.1:p.Leu290Gln
NM_001318966.2:c.761T>A	NP_001305895.1:p.Leu254Gln
NM_001318967.2:c.713T>A	NP_001305896.1:p.Leu238Gln
NM_001318968.2:c.221T>A	NP_001305897.1:p.Leu74Gln
NM_001318969.2:c.188T>A	NP_001305898.1:p.Leu63Gln
NM_015636.4:c.803T>A	NP_056451.3:p.Leu268Gln
NM_172195.4:c.866T>A	NP_751945.2:p.Leu289Gln