Canonical Allele Identifier: CA1576829

Gene: EIF2B4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27368104C>T , CM000664.2:g.27368104C>T	GRCh38
NC_000002.11:g.27590971C>T , CM000664.1:g.27590971C>T	GRCh37
NC_000002.10:g.27444475C>T	NCBI36
NG_009305.1:g.7354G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.626G>A MANE Select	ENSP00000233552.6:p.Arg209Gln
ENST00000347454.8:c.626G>A	ENSP00000233552.5:p.Arg209Gln
ENST00000405940.6:c.600G>A	ENSP00000384375.2:p.Ala200=
ENST00000417567.1:c.202G>A
ENST00000445933.6:c.623G>A	ENSP00000394397.2:p.Arg208Gln
ENST00000451130.6:c.686G>A	ENSP00000394869.2:p.Arg229Gln
ENST00000475582.5:n.1747G>A
ENST00000493344.6:c.689G>A	ENSP00000429323.1:p.Arg230Gln
ENST00000616081.4:c.617G>A	ENSP00000477710.1:p.Arg206Gln
ENST00000622434.4:c.581G>A	ENSP00000479991.1:p.Arg194Gln
NM_001034116.1:c.626G>A	NP_001029288.1:p.Arg209Gln
NM_015636.3:c.623G>A	NP_056451.3:p.Arg208Gln
NM_172195.3:c.686G>A	NP_751945.2:p.Arg229Gln
XM_005264632.1:c.581G>A	XP_005264689.1:p.Arg194Gln
XM_006712132.1:c.578G>A	XP_006712195.1:p.Arg193Gln
XM_011533147.1:c.8G>A	XP_011531449.1:p.Arg3Gln
NM_001318965.1:c.689G>A	NP_001305894.1:p.Arg230Gln
NM_001318966.1:c.581G>A	NP_001305895.1:p.Arg194Gln
NM_001318967.1:c.533G>A	NP_001305896.1:p.Arg178Gln
NM_001318968.1:c.41G>A	NP_001305897.1:p.Arg14Gln
NM_001318969.1:c.8G>A	NP_001305898.1:p.Arg3Gln
XM_011533147.2:c.8G>A	XP_011531449.1:p.Arg3Gln
NM_001034116.2:c.626G>A MANE Select	NP_001029288.1:p.Arg209Gln
NM_001318965.2:c.689G>A	NP_001305894.1:p.Arg230Gln
NM_001318966.2:c.581G>A	NP_001305895.1:p.Arg194Gln
NM_001318967.2:c.533G>A	NP_001305896.1:p.Arg178Gln
NM_001318968.2:c.41G>A	NP_001305897.1:p.Arg14Gln
NM_001318969.2:c.8G>A	NP_001305898.1:p.Arg3Gln
NM_015636.4:c.623G>A	NP_056451.3:p.Arg208Gln
NM_172195.4:c.686G>A	NP_751945.2:p.Arg229Gln