Canonical Allele Identifier: CA346199405

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590422G>T (hg19) ; chr2:g.27367555G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367555G>T , CM000664.2:g.27367555G>T	GRCh38
NC_000002.11:g.27590422G>T , CM000664.1:g.27590422G>T	GRCh37
NC_000002.10:g.27443926G>T	NCBI36
NG_009305.1:g.7903C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.787C>A MANE Select	ENSP00000233552.6:p.Leu263Met
ENST00000347454.8:c.787C>A	ENSP00000233552.5:p.Leu263Met
ENST00000405940.6:c.*53C>A	ENSP00000384375.2:n.*53C>A
ENST00000417567.1:c.363C>A
ENST00000445933.6:c.784C>A	ENSP00000394397.2:p.Leu262Met
ENST00000451130.6:c.847C>A	ENSP00000394869.2:p.Leu283Met
ENST00000475582.5:n.2296C>A
ENST00000493344.6:c.850C>A	ENSP00000429323.1:p.Leu284Met
ENST00000616081.4:c.778C>A	ENSP00000477710.1:p.Leu260Met
ENST00000622434.4:c.*53C>A	ENSP00000479991.1:n.*53C>A
NM_001034116.1:c.787C>A	NP_001029288.1:p.Leu263Met
NM_015636.3:c.784C>A	NP_056451.3:p.Leu262Met
NM_172195.3:c.847C>A	NP_751945.2:p.Leu283Met
XM_005264632.1:c.742C>A	XP_005264689.1:p.Leu248Met
XM_006712132.1:c.739C>A	XP_006712195.1:p.Leu247Met
XM_011533147.1:c.169C>A	XP_011531449.1:p.Leu57Met
NM_001318965.1:c.850C>A	NP_001305894.1:p.Leu284Met
NM_001318966.1:c.742C>A	NP_001305895.1:p.Leu248Met
NM_001318967.1:c.694C>A	NP_001305896.1:p.Leu232Met
NM_001318968.1:c.202C>A	NP_001305897.1:p.Leu68Met
NM_001318969.1:c.169C>A	NP_001305898.1:p.Leu57Met
XM_011533147.2:c.169C>A	XP_011531449.1:p.Leu57Met
NM_001034116.2:c.787C>A MANE Select	NP_001029288.1:p.Leu263Met
NM_001318965.2:c.850C>A	NP_001305894.1:p.Leu284Met
NM_001318966.2:c.742C>A	NP_001305895.1:p.Leu248Met
NM_001318967.2:c.694C>A	NP_001305896.1:p.Leu232Met
NM_001318968.2:c.202C>A	NP_001305897.1:p.Leu68Met
NM_001318969.2:c.169C>A	NP_001305898.1:p.Leu57Met
NM_015636.4:c.784C>A	NP_056451.3:p.Leu262Met
NM_172195.4:c.847C>A	NP_751945.2:p.Leu283Met