Canonical Allele Identifier: CA44512352

Gene: EIF2B4

Linked Data

• dbSNP Id: rs113994031
• gnomAD v4: 2-27367536-A-C
• MyVariant Identifiers: chr2:g.27590403A>C (hg19) ; chr2:g.27367536A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.806T>G MANE Select	ENSP00000233552.6:p.Leu269Arg
ENST00000347454.8:c.806T>G	ENSP00000233552.5:p.Leu269Arg
ENST00000405940.6:c.*72T>G	ENSP00000384375.2:n.*72T>G
ENST00000417567.1:c.382T>G
ENST00000445933.6:c.803T>G	ENSP00000394397.2:p.Leu268Arg
ENST00000451130.6:c.866T>G	ENSP00000394869.2:p.Leu289Arg
ENST00000475582.5:n.2315T>G
ENST00000493344.6:c.869T>G	ENSP00000429323.1:p.Leu290Arg
ENST00000616081.4:c.797T>G	ENSP00000477710.1:p.Leu266Arg
ENST00000622434.4:c.*72T>G	ENSP00000479991.1:n.*72T>G
NM_001034116.1:c.806T>G	NP_001029288.1:p.Leu269Arg
NM_015636.3:c.803T>G	NP_056451.3:p.Leu268Arg
NM_172195.3:c.866T>G	NP_751945.2:p.Leu289Arg
XM_005264632.1:c.761T>G	XP_005264689.1:p.Leu254Arg
XM_006712132.1:c.758T>G	XP_006712195.1:p.Leu253Arg
XM_011533147.1:c.188T>G	XP_011531449.1:p.Leu63Arg
NM_001318965.1:c.869T>G	NP_001305894.1:p.Leu290Arg
NM_001318966.1:c.761T>G	NP_001305895.1:p.Leu254Arg
NM_001318967.1:c.713T>G	NP_001305896.1:p.Leu238Arg
NM_001318968.1:c.221T>G	NP_001305897.1:p.Leu74Arg
NM_001318969.1:c.188T>G	NP_001305898.1:p.Leu63Arg
XM_011533147.2:c.188T>G	XP_011531449.1:p.Leu63Arg
NM_001034116.2:c.806T>G MANE Select	NP_001029288.1:p.Leu269Arg
NM_001318965.2:c.869T>G	NP_001305894.1:p.Leu290Arg
NM_001318966.2:c.761T>G	NP_001305895.1:p.Leu254Arg
NM_001318967.2:c.713T>G	NP_001305896.1:p.Leu238Arg
NM_001318968.2:c.221T>G	NP_001305897.1:p.Leu74Arg
NM_001318969.2:c.188T>G	NP_001305898.1:p.Leu63Arg
NM_015636.4:c.803T>G	NP_056451.3:p.Leu268Arg
NM_172195.4:c.866T>G	NP_751945.2:p.Leu289Arg