Canonical Allele Identifier: CA346200406

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.626G>T MANE Select	ENSP00000233552.6:p.Arg209Leu
ENST00000347454.8:c.626G>T	ENSP00000233552.5:p.Arg209Leu
ENST00000405940.6:c.600G>T	ENSP00000384375.2:p.Ala200=
ENST00000417567.1:c.202G>T
ENST00000445933.6:c.623G>T	ENSP00000394397.2:p.Arg208Leu
ENST00000451130.6:c.686G>T	ENSP00000394869.2:p.Arg229Leu
ENST00000475582.5:n.1747G>T
ENST00000493344.6:c.689G>T	ENSP00000429323.1:p.Arg230Leu
ENST00000616081.4:c.617G>T	ENSP00000477710.1:p.Arg206Leu
ENST00000622434.4:c.581G>T	ENSP00000479991.1:p.Arg194Leu
NM_001034116.1:c.626G>T	NP_001029288.1:p.Arg209Leu
NM_015636.3:c.623G>T	NP_056451.3:p.Arg208Leu
NM_172195.3:c.686G>T	NP_751945.2:p.Arg229Leu
XM_005264632.1:c.581G>T	XP_005264689.1:p.Arg194Leu
XM_006712132.1:c.578G>T	XP_006712195.1:p.Arg193Leu
XM_011533147.1:c.8G>T	XP_011531449.1:p.Arg3Leu
NM_001318965.1:c.689G>T	NP_001305894.1:p.Arg230Leu
NM_001318966.1:c.581G>T	NP_001305895.1:p.Arg194Leu
NM_001318967.1:c.533G>T	NP_001305896.1:p.Arg178Leu
NM_001318968.1:c.41G>T	NP_001305897.1:p.Arg14Leu
NM_001318969.1:c.8G>T	NP_001305898.1:p.Arg3Leu
XM_011533147.2:c.8G>T	XP_011531449.1:p.Arg3Leu
NM_001034116.2:c.626G>T MANE Select	NP_001029288.1:p.Arg209Leu
NM_001318965.2:c.689G>T	NP_001305894.1:p.Arg230Leu
NM_001318966.2:c.581G>T	NP_001305895.1:p.Arg194Leu
NM_001318967.2:c.533G>T	NP_001305896.1:p.Arg178Leu
NM_001318968.2:c.41G>T	NP_001305897.1:p.Arg14Leu
NM_001318969.2:c.8G>T	NP_001305898.1:p.Arg3Leu
NM_015636.4:c.623G>T	NP_056451.3:p.Arg208Leu
NM_172195.4:c.686G>T	NP_751945.2:p.Arg229Leu