Canonical Allele Identifier: CA346199375

Gene: EIF2B4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.797G>T MANE Select	ENSP00000233552.6:p.Cys266Phe
ENST00000347454.8:c.797G>T	ENSP00000233552.5:p.Cys266Phe
ENST00000405940.6:c.*63G>T	ENSP00000384375.2:n.*63G>T
ENST00000417567.1:c.373G>T
ENST00000445933.6:c.794G>T	ENSP00000394397.2:p.Cys265Phe
ENST00000451130.6:c.857G>T	ENSP00000394869.2:p.Cys286Phe
ENST00000475582.5:n.2306G>T
ENST00000493344.6:c.860G>T	ENSP00000429323.1:p.Cys287Phe
ENST00000616081.4:c.788G>T	ENSP00000477710.1:p.Cys263Phe
ENST00000622434.4:c.*63G>T	ENSP00000479991.1:n.*63G>T
NM_001034116.1:c.797G>T	NP_001029288.1:p.Cys266Phe
NM_015636.3:c.794G>T	NP_056451.3:p.Cys265Phe
NM_172195.3:c.857G>T	NP_751945.2:p.Cys286Phe
XM_005264632.1:c.752G>T	XP_005264689.1:p.Cys251Phe
XM_006712132.1:c.749G>T	XP_006712195.1:p.Cys250Phe
XM_011533147.1:c.179G>T	XP_011531449.1:p.Cys60Phe
NM_001318965.1:c.860G>T	NP_001305894.1:p.Cys287Phe
NM_001318966.1:c.752G>T	NP_001305895.1:p.Cys251Phe
NM_001318967.1:c.704G>T	NP_001305896.1:p.Cys235Phe
NM_001318968.1:c.212G>T	NP_001305897.1:p.Cys71Phe
NM_001318969.1:c.179G>T	NP_001305898.1:p.Cys60Phe
XM_011533147.2:c.179G>T	XP_011531449.1:p.Cys60Phe
NM_001034116.2:c.797G>T MANE Select	NP_001029288.1:p.Cys266Phe
NM_001318965.2:c.860G>T	NP_001305894.1:p.Cys287Phe
NM_001318966.2:c.752G>T	NP_001305895.1:p.Cys251Phe
NM_001318967.2:c.704G>T	NP_001305896.1:p.Cys235Phe
NM_001318968.2:c.212G>T	NP_001305897.1:p.Cys71Phe
NM_001318969.2:c.179G>T	NP_001305898.1:p.Cys60Phe
NM_015636.4:c.794G>T	NP_056451.3:p.Cys265Phe
NM_172195.4:c.857G>T	NP_751945.2:p.Cys286Phe