Canonical Allele Identifier: CA346199377

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590412C>T (hg19) ; chr2:g.27367545C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367545C>T , CM000664.2:g.27367545C>T	GRCh38
NC_000002.11:g.27590412C>T , CM000664.1:g.27590412C>T	GRCh37
NC_000002.10:g.27443916C>T	NCBI36
NG_009305.1:g.7913G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.797G>A MANE Select	ENSP00000233552.6:p.Cys266Tyr
ENST00000347454.8:c.797G>A	ENSP00000233552.5:p.Cys266Tyr
ENST00000405940.6:c.*63G>A	ENSP00000384375.2:n.*63G>A
ENST00000417567.1:c.373G>A
ENST00000445933.6:c.794G>A	ENSP00000394397.2:p.Cys265Tyr
ENST00000451130.6:c.857G>A	ENSP00000394869.2:p.Cys286Tyr
ENST00000475582.5:n.2306G>A
ENST00000493344.6:c.860G>A	ENSP00000429323.1:p.Cys287Tyr
ENST00000616081.4:c.788G>A	ENSP00000477710.1:p.Cys263Tyr
ENST00000622434.4:c.*63G>A	ENSP00000479991.1:n.*63G>A
NM_001034116.1:c.797G>A	NP_001029288.1:p.Cys266Tyr
NM_015636.3:c.794G>A	NP_056451.3:p.Cys265Tyr
NM_172195.3:c.857G>A	NP_751945.2:p.Cys286Tyr
XM_005264632.1:c.752G>A	XP_005264689.1:p.Cys251Tyr
XM_006712132.1:c.749G>A	XP_006712195.1:p.Cys250Tyr
XM_011533147.1:c.179G>A	XP_011531449.1:p.Cys60Tyr
NM_001318965.1:c.860G>A	NP_001305894.1:p.Cys287Tyr
NM_001318966.1:c.752G>A	NP_001305895.1:p.Cys251Tyr
NM_001318967.1:c.704G>A	NP_001305896.1:p.Cys235Tyr
NM_001318968.1:c.212G>A	NP_001305897.1:p.Cys71Tyr
NM_001318969.1:c.179G>A	NP_001305898.1:p.Cys60Tyr
XM_011533147.2:c.179G>A	XP_011531449.1:p.Cys60Tyr
NM_001034116.2:c.797G>A MANE Select	NP_001029288.1:p.Cys266Tyr
NM_001318965.2:c.860G>A	NP_001305894.1:p.Cys287Tyr
NM_001318966.2:c.752G>A	NP_001305895.1:p.Cys251Tyr
NM_001318967.2:c.704G>A	NP_001305896.1:p.Cys235Tyr
NM_001318968.2:c.212G>A	NP_001305897.1:p.Cys71Tyr
NM_001318969.2:c.179G>A	NP_001305898.1:p.Cys60Tyr
NM_015636.4:c.794G>A	NP_056451.3:p.Cys265Tyr
NM_172195.4:c.857G>A	NP_751945.2:p.Cys286Tyr