Canonical Allele Identifier: CA346199852

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590676T>C (hg19) ; chr2:g.27367809T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367809T>C , CM000664.2:g.27367809T>C	GRCh38
NC_000002.11:g.27590676T>C , CM000664.1:g.27590676T>C	GRCh37
NC_000002.10:g.27444180T>C	NCBI36
NG_009305.1:g.7649A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.719A>G MANE Select	ENSP00000233552.6:p.Tyr240Cys
ENST00000347454.8:c.719A>G	ENSP00000233552.5:p.Tyr240Cys
ENST00000405940.6:c.693A>G	ENSP00000384375.2:p.Leu231=
ENST00000417567.1:c.295A>G
ENST00000445933.6:c.716A>G	ENSP00000394397.2:p.Tyr239Cys
ENST00000451130.6:c.779A>G	ENSP00000394869.2:p.Tyr260Cys
ENST00000475582.5:n.2042A>G
ENST00000493344.6:c.782A>G	ENSP00000429323.1:p.Tyr261Cys
ENST00000616081.4:c.710A>G	ENSP00000477710.1:p.Tyr237Cys
ENST00000622434.4:c.674A>G	ENSP00000479991.1:p.Tyr225Cys
NM_001034116.1:c.719A>G	NP_001029288.1:p.Tyr240Cys
NM_015636.3:c.716A>G	NP_056451.3:p.Tyr239Cys
NM_172195.3:c.779A>G	NP_751945.2:p.Tyr260Cys
XM_005264632.1:c.674A>G	XP_005264689.1:p.Tyr225Cys
XM_006712132.1:c.671A>G	XP_006712195.1:p.Tyr224Cys
XM_011533147.1:c.101A>G	XP_011531449.1:p.Tyr34Cys
NM_001318965.1:c.782A>G	NP_001305894.1:p.Tyr261Cys
NM_001318966.1:c.674A>G	NP_001305895.1:p.Tyr225Cys
NM_001318967.1:c.626A>G	NP_001305896.1:p.Tyr209Cys
NM_001318968.1:c.134A>G	NP_001305897.1:p.Tyr45Cys
NM_001318969.1:c.101A>G	NP_001305898.1:p.Tyr34Cys
XM_011533147.2:c.101A>G	XP_011531449.1:p.Tyr34Cys
NM_001034116.2:c.719A>G MANE Select	NP_001029288.1:p.Tyr240Cys
NM_001318965.2:c.782A>G	NP_001305894.1:p.Tyr261Cys
NM_001318966.2:c.674A>G	NP_001305895.1:p.Tyr225Cys
NM_001318967.2:c.626A>G	NP_001305896.1:p.Tyr209Cys
NM_001318968.2:c.134A>G	NP_001305897.1:p.Tyr45Cys
NM_001318969.2:c.101A>G	NP_001305898.1:p.Tyr34Cys
NM_015636.4:c.716A>G	NP_056451.3:p.Tyr239Cys
NM_172195.4:c.779A>G	NP_751945.2:p.Tyr260Cys