Canonical Allele Identifier: CA346199395

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590421A>C (hg19) ; chr2:g.27367554A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367554A>C , CM000664.2:g.27367554A>C	GRCh38
NC_000002.11:g.27590421A>C , CM000664.1:g.27590421A>C	GRCh37
NC_000002.10:g.27443925A>C	NCBI36
NG_009305.1:g.7904T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.788T>G MANE Select	ENSP00000233552.6:p.Leu263Arg
ENST00000347454.8:c.788T>G	ENSP00000233552.5:p.Leu263Arg
ENST00000405940.6:c.*54T>G	ENSP00000384375.2:n.*54T>G
ENST00000417567.1:c.364T>G
ENST00000445933.6:c.785T>G	ENSP00000394397.2:p.Leu262Arg
ENST00000451130.6:c.848T>G	ENSP00000394869.2:p.Leu283Arg
ENST00000475582.5:n.2297T>G
ENST00000493344.6:c.851T>G	ENSP00000429323.1:p.Leu284Arg
ENST00000616081.4:c.779T>G	ENSP00000477710.1:p.Leu260Arg
ENST00000622434.4:c.*54T>G	ENSP00000479991.1:n.*54T>G
NM_001034116.1:c.788T>G	NP_001029288.1:p.Leu263Arg
NM_015636.3:c.785T>G	NP_056451.3:p.Leu262Arg
NM_172195.3:c.848T>G	NP_751945.2:p.Leu283Arg
XM_005264632.1:c.743T>G	XP_005264689.1:p.Leu248Arg
XM_006712132.1:c.740T>G	XP_006712195.1:p.Leu247Arg
XM_011533147.1:c.170T>G	XP_011531449.1:p.Leu57Arg
NM_001318965.1:c.851T>G	NP_001305894.1:p.Leu284Arg
NM_001318966.1:c.743T>G	NP_001305895.1:p.Leu248Arg
NM_001318967.1:c.695T>G	NP_001305896.1:p.Leu232Arg
NM_001318968.1:c.203T>G	NP_001305897.1:p.Leu68Arg
NM_001318969.1:c.170T>G	NP_001305898.1:p.Leu57Arg
XM_011533147.2:c.170T>G	XP_011531449.1:p.Leu57Arg
NM_001034116.2:c.788T>G MANE Select	NP_001029288.1:p.Leu263Arg
NM_001318965.2:c.851T>G	NP_001305894.1:p.Leu284Arg
NM_001318966.2:c.743T>G	NP_001305895.1:p.Leu248Arg
NM_001318967.2:c.695T>G	NP_001305896.1:p.Leu232Arg
NM_001318968.2:c.203T>G	NP_001305897.1:p.Leu68Arg
NM_001318969.2:c.170T>G	NP_001305898.1:p.Leu57Arg
NM_015636.4:c.785T>G	NP_056451.3:p.Leu262Arg
NM_172195.4:c.848T>G	NP_751945.2:p.Leu283Arg