Canonical Allele Identifier: CA1576799

Gene: EIF2B4

Linked Data

• dbSNP Id: rs769277328
• ExAC: 2:27590654 T / C
• gnomAD v2: 2-27590654-T-C
• gnomAD v4: 2-27367787-T-C
• MyVariant Identifiers: chr2:g.27590654T>C (hg19) ; chr2:g.27367787T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367787T>C , CM000664.2:g.27367787T>C	GRCh38
NC_000002.11:g.27590654T>C , CM000664.1:g.27590654T>C	GRCh37
NC_000002.10:g.27444158T>C	NCBI36
NG_009305.1:g.7671A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.741A>G MANE Select	ENSP00000233552.6:p.Glu247=
ENST00000347454.8:c.741A>G	ENSP00000233552.5:p.Glu247=
ENST00000405940.6:c.*7A>G	ENSP00000384375.2:n.*7A>G
ENST00000417567.1:c.317A>G
ENST00000445933.6:c.738A>G	ENSP00000394397.2:p.Glu246=
ENST00000451130.6:c.801A>G	ENSP00000394869.2:p.Glu267=
ENST00000475582.5:n.2064A>G
ENST00000493344.6:c.804A>G	ENSP00000429323.1:p.Glu268=
ENST00000616081.4:c.732A>G	ENSP00000477710.1:p.Glu244=
ENST00000622434.4:c.*7A>G	ENSP00000479991.1:n.*7A>G
NM_001034116.1:c.741A>G	NP_001029288.1:p.Glu247=
NM_015636.3:c.738A>G	NP_056451.3:p.Glu246=
NM_172195.3:c.801A>G	NP_751945.2:p.Glu267=
XM_005264632.1:c.696A>G	XP_005264689.1:p.Glu232=
XM_006712132.1:c.693A>G	XP_006712195.1:p.Glu231=
XM_011533147.1:c.123A>G	XP_011531449.1:p.Glu41=
NM_001318965.1:c.804A>G	NP_001305894.1:p.Glu268=
NM_001318966.1:c.696A>G	NP_001305895.1:p.Glu232=
NM_001318967.1:c.648A>G	NP_001305896.1:p.Glu216=
NM_001318968.1:c.156A>G	NP_001305897.1:p.Glu52=
NM_001318969.1:c.123A>G	NP_001305898.1:p.Glu41=
XM_011533147.2:c.123A>G	XP_011531449.1:p.Glu41=
NM_001034116.2:c.741A>G MANE Select	NP_001029288.1:p.Glu247=
NM_001318965.2:c.804A>G	NP_001305894.1:p.Glu268=
NM_001318966.2:c.696A>G	NP_001305895.1:p.Glu232=
NM_001318967.2:c.648A>G	NP_001305896.1:p.Glu216=
NM_001318968.2:c.156A>G	NP_001305897.1:p.Glu52=
NM_001318969.2:c.123A>G	NP_001305898.1:p.Glu41=
NM_015636.4:c.738A>G	NP_056451.3:p.Glu246=
NM_172195.4:c.801A>G	NP_751945.2:p.Glu267=