Canonical Allele Identifier: CA346199770

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590664G>T (hg19) ; chr2:g.27367797G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367797G>T , CM000664.2:g.27367797G>T	GRCh38
NC_000002.11:g.27590664G>T , CM000664.1:g.27590664G>T	GRCh37
NC_000002.10:g.27444168G>T	NCBI36
NG_009305.1:g.7661C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.731C>A MANE Select	ENSP00000233552.6:p.Pro244His
ENST00000347454.8:c.731C>A	ENSP00000233552.5:p.Pro244His
ENST00000405940.6:c.705C>A	ENSP00000384375.2:p.Ala235=
ENST00000417567.1:c.307C>A
ENST00000445933.6:c.728C>A	ENSP00000394397.2:p.Pro243His
ENST00000451130.6:c.791C>A	ENSP00000394869.2:p.Pro264His
ENST00000475582.5:n.2054C>A
ENST00000493344.6:c.794C>A	ENSP00000429323.1:p.Pro265His
ENST00000616081.4:c.722C>A	ENSP00000477710.1:p.Pro241His
ENST00000622434.4:c.684C>A	ENSP00000479991.1:p.Ala228=
NM_001034116.1:c.731C>A	NP_001029288.1:p.Pro244His
NM_015636.3:c.728C>A	NP_056451.3:p.Pro243His
NM_172195.3:c.791C>A	NP_751945.2:p.Pro264His
XM_005264632.1:c.686C>A	XP_005264689.1:p.Pro229His
XM_006712132.1:c.683C>A	XP_006712195.1:p.Pro228His
XM_011533147.1:c.113C>A	XP_011531449.1:p.Pro38His
NM_001318965.1:c.794C>A	NP_001305894.1:p.Pro265His
NM_001318966.1:c.686C>A	NP_001305895.1:p.Pro229His
NM_001318967.1:c.638C>A	NP_001305896.1:p.Pro213His
NM_001318968.1:c.146C>A	NP_001305897.1:p.Pro49His
NM_001318969.1:c.113C>A	NP_001305898.1:p.Pro38His
XM_011533147.2:c.113C>A	XP_011531449.1:p.Pro38His
NM_001034116.2:c.731C>A MANE Select	NP_001029288.1:p.Pro244His
NM_001318965.2:c.794C>A	NP_001305894.1:p.Pro265His
NM_001318966.2:c.686C>A	NP_001305895.1:p.Pro229His
NM_001318967.2:c.638C>A	NP_001305896.1:p.Pro213His
NM_001318968.2:c.146C>A	NP_001305897.1:p.Pro49His
NM_001318969.2:c.113C>A	NP_001305898.1:p.Pro38His
NM_015636.4:c.728C>A	NP_056451.3:p.Pro243His
NM_172195.4:c.791C>A	NP_751945.2:p.Pro264His