Canonical Allele Identifier: CA346200236

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590933A>T (hg19) ; chr2:g.27368066A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27368066A>T , CM000664.2:g.27368066A>T	GRCh38
NC_000002.11:g.27590933A>T , CM000664.1:g.27590933A>T	GRCh37
NC_000002.10:g.27444437A>T	NCBI36
NG_009305.1:g.7392T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.664T>A MANE Select	ENSP00000233552.6:p.Ser222Thr
ENST00000347454.8:c.664T>A	ENSP00000233552.5:p.Ser222Thr
ENST00000405940.6:c.638T>A	ENSP00000384375.2:p.Leu213His
ENST00000417567.1:c.240T>A
ENST00000445933.6:c.661T>A	ENSP00000394397.2:p.Ser221Thr
ENST00000451130.6:c.724T>A	ENSP00000394869.2:p.Ser242Thr
ENST00000475582.5:n.1785T>A
ENST00000493344.6:c.727T>A	ENSP00000429323.1:p.Ser243Thr
ENST00000616081.4:c.655T>A	ENSP00000477710.1:p.Ser219Thr
ENST00000622434.4:c.619T>A	ENSP00000479991.1:p.Ser207Thr
NM_001034116.1:c.664T>A	NP_001029288.1:p.Ser222Thr
NM_015636.3:c.661T>A	NP_056451.3:p.Ser221Thr
NM_172195.3:c.724T>A	NP_751945.2:p.Ser242Thr
XM_005264632.1:c.619T>A	XP_005264689.1:p.Ser207Thr
XM_006712132.1:c.616T>A	XP_006712195.1:p.Ser206Thr
XM_011533147.1:c.46T>A	XP_011531449.1:p.Ser16Thr
NM_001318965.1:c.727T>A	NP_001305894.1:p.Ser243Thr
NM_001318966.1:c.619T>A	NP_001305895.1:p.Ser207Thr
NM_001318967.1:c.571T>A	NP_001305896.1:p.Ser191Thr
NM_001318968.1:c.79T>A	NP_001305897.1:p.Ser27Thr
NM_001318969.1:c.46T>A	NP_001305898.1:p.Ser16Thr
XM_011533147.2:c.46T>A	XP_011531449.1:p.Ser16Thr
NM_001034116.2:c.664T>A MANE Select	NP_001029288.1:p.Ser222Thr
NM_001318965.2:c.727T>A	NP_001305894.1:p.Ser243Thr
NM_001318966.2:c.619T>A	NP_001305895.1:p.Ser207Thr
NM_001318967.2:c.571T>A	NP_001305896.1:p.Ser191Thr
NM_001318968.2:c.79T>A	NP_001305897.1:p.Ser27Thr
NM_001318969.2:c.46T>A	NP_001305898.1:p.Ser16Thr
NM_015636.4:c.661T>A	NP_056451.3:p.Ser221Thr
NM_172195.4:c.724T>A	NP_751945.2:p.Ser242Thr