Canonical Allele Identifier: CA346199386

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590416G>T (hg19) ; chr2:g.27367549G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367549G>T , CM000664.2:g.27367549G>T	GRCh38
NC_000002.11:g.27590416G>T , CM000664.1:g.27590416G>T	GRCh37
NC_000002.10:g.27443920G>T	NCBI36
NG_009305.1:g.7909C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.793C>A MANE Select	ENSP00000233552.6:p.Gln265Lys
ENST00000347454.8:c.793C>A	ENSP00000233552.5:p.Gln265Lys
ENST00000405940.6:c.*59C>A	ENSP00000384375.2:n.*59C>A
ENST00000417567.1:c.369C>A
ENST00000445933.6:c.790C>A	ENSP00000394397.2:p.Gln264Lys
ENST00000451130.6:c.853C>A	ENSP00000394869.2:p.Gln285Lys
ENST00000475582.5:n.2302C>A
ENST00000493344.6:c.856C>A	ENSP00000429323.1:p.Gln286Lys
ENST00000616081.4:c.784C>A	ENSP00000477710.1:p.Gln262Lys
ENST00000622434.4:c.*59C>A	ENSP00000479991.1:n.*59C>A
NM_001034116.1:c.793C>A	NP_001029288.1:p.Gln265Lys
NM_015636.3:c.790C>A	NP_056451.3:p.Gln264Lys
NM_172195.3:c.853C>A	NP_751945.2:p.Gln285Lys
XM_005264632.1:c.748C>A	XP_005264689.1:p.Gln250Lys
XM_006712132.1:c.745C>A	XP_006712195.1:p.Gln249Lys
XM_011533147.1:c.175C>A	XP_011531449.1:p.Gln59Lys
NM_001318965.1:c.856C>A	NP_001305894.1:p.Gln286Lys
NM_001318966.1:c.748C>A	NP_001305895.1:p.Gln250Lys
NM_001318967.1:c.700C>A	NP_001305896.1:p.Gln234Lys
NM_001318968.1:c.208C>A	NP_001305897.1:p.Gln70Lys
NM_001318969.1:c.175C>A	NP_001305898.1:p.Gln59Lys
XM_011533147.2:c.175C>A	XP_011531449.1:p.Gln59Lys
NM_001034116.2:c.793C>A MANE Select	NP_001029288.1:p.Gln265Lys
NM_001318965.2:c.856C>A	NP_001305894.1:p.Gln286Lys
NM_001318966.2:c.748C>A	NP_001305895.1:p.Gln250Lys
NM_001318967.2:c.700C>A	NP_001305896.1:p.Gln234Lys
NM_001318968.2:c.208C>A	NP_001305897.1:p.Gln70Lys
NM_001318969.2:c.175C>A	NP_001305898.1:p.Gln59Lys
NM_015636.4:c.790C>A	NP_056451.3:p.Gln264Lys
NM_172195.4:c.853C>A	NP_751945.2:p.Gln285Lys