Canonical Allele Identifier: CA346199381

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590414C>A (hg19) ; chr2:g.27367547C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367547C>A , CM000664.2:g.27367547C>A	GRCh38
NC_000002.11:g.27590414C>A , CM000664.1:g.27590414C>A	GRCh37
NC_000002.10:g.27443918C>A	NCBI36
NG_009305.1:g.7911G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.795G>T MANE Select	ENSP00000233552.6:p.Gln265His
ENST00000347454.8:c.795G>T	ENSP00000233552.5:p.Gln265His
ENST00000405940.6:c.*61G>T	ENSP00000384375.2:n.*61G>T
ENST00000417567.1:c.371G>T
ENST00000445933.6:c.792G>T	ENSP00000394397.2:p.Gln264His
ENST00000451130.6:c.855G>T	ENSP00000394869.2:p.Gln285His
ENST00000475582.5:n.2304G>T
ENST00000493344.6:c.858G>T	ENSP00000429323.1:p.Gln286His
ENST00000616081.4:c.786G>T	ENSP00000477710.1:p.Gln262His
ENST00000622434.4:c.*61G>T	ENSP00000479991.1:n.*61G>T
NM_001034116.1:c.795G>T	NP_001029288.1:p.Gln265His
NM_015636.3:c.792G>T	NP_056451.3:p.Gln264His
NM_172195.3:c.855G>T	NP_751945.2:p.Gln285His
XM_005264632.1:c.750G>T	XP_005264689.1:p.Gln250His
XM_006712132.1:c.747G>T	XP_006712195.1:p.Gln249His
XM_011533147.1:c.177G>T	XP_011531449.1:p.Gln59His
NM_001318965.1:c.858G>T	NP_001305894.1:p.Gln286His
NM_001318966.1:c.750G>T	NP_001305895.1:p.Gln250His
NM_001318967.1:c.702G>T	NP_001305896.1:p.Gln234His
NM_001318968.1:c.210G>T	NP_001305897.1:p.Gln70His
NM_001318969.1:c.177G>T	NP_001305898.1:p.Gln59His
XM_011533147.2:c.177G>T	XP_011531449.1:p.Gln59His
NM_001034116.2:c.795G>T MANE Select	NP_001029288.1:p.Gln265His
NM_001318965.2:c.858G>T	NP_001305894.1:p.Gln286His
NM_001318966.2:c.750G>T	NP_001305895.1:p.Gln250His
NM_001318967.2:c.702G>T	NP_001305896.1:p.Gln234His
NM_001318968.2:c.210G>T	NP_001305897.1:p.Gln70His
NM_001318969.2:c.177G>T	NP_001305898.1:p.Gln59His
NM_015636.4:c.792G>T	NP_056451.3:p.Gln264His
NM_172195.4:c.855G>T	NP_751945.2:p.Gln285His