Canonical Allele Identifier: CA425409840

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27364722-C-T
• MyVariant Identifiers: chr2:g.27587589C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364722C>T , CM000664.2:g.27364722C>T	GRCh38
NC_000002.11:g.27587589C>T , CM000664.1:g.27587589C>T	GRCh37
NC_000002.10:g.27441093C>T	NCBI36
NG_009305.1:g.10736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1368G>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Glu456=
ENST00000347454.8:c.1368G>A (EIF2B4)	ENSP00000233552.5:p.Glu456=
ENST00000405940.6:c.*634G>A (EIF2B4)	ENSP00000384375.2:n.*634G>A
ENST00000445933.6:c.1365G>A (EIF2B4)	ENSP00000394397.2:p.Glu455=
ENST00000451130.6:c.1428G>A (EIF2B4)	ENSP00000394869.2:p.Glu476=
ENST00000478311.1:n.361G>A (EIF2B4)
ENST00000493344.6:c.1431G>A (EIF2B4)	ENSP00000429323.1:p.Glu477=
ENST00000616081.4:c.1359G>A (EIF2B4)	ENSP00000477710.1:p.Glu453=
ENST00000622434.4:c.*634G>A (EIF2B4)	ENSP00000479991.1:n.*634G>A
NM_001034116.1:c.1368G>A (EIF2B4)	NP_001029288.1:p.Glu456=
NM_015636.3:c.1365G>A (EIF2B4)	NP_056451.3:p.Glu455=
NM_172195.3:c.1428G>A (EIF2B4)	NP_751945.2:p.Glu476=
XM_005264632.1:c.1323G>A (EIF2B4)	XP_005264689.1:p.Glu441=
XM_006712132.1:c.1320G>A (EIF2B4)	XP_006712195.1:p.Glu440=
XM_011533147.1:c.750G>A (EIF2B4)	XP_011531449.1:p.Glu250=
XR_939868.1:n.1772-2702C>T (GTF3C2-AS2)
NM_001318965.1:c.1431G>A (EIF2B4)	NP_001305894.1:p.Glu477=
NM_001318966.1:c.1323G>A (EIF2B4)	NP_001305895.1:p.Glu441=
NM_001318967.1:c.1275G>A (EIF2B4)	NP_001305896.1:p.Glu425=
NM_001318968.1:c.783G>A (EIF2B4)	NP_001305897.1:p.Glu261=
NM_001318969.1:c.750G>A (EIF2B4)	NP_001305898.1:p.Glu250=
XM_011533147.2:c.750G>A (EIF2B4)	XP_011531449.1:p.Glu250=
NM_001034116.2:c.1368G>A (EIF2B4) MANE Select	NP_001029288.1:p.Glu456=
NM_001318965.2:c.1431G>A (EIF2B4)	NP_001305894.1:p.Glu477=
NM_001318966.2:c.1323G>A (EIF2B4)	NP_001305895.1:p.Glu441=
NM_001318967.2:c.1275G>A (EIF2B4)	NP_001305896.1:p.Glu425=
NM_001318968.2:c.783G>A (EIF2B4)	NP_001305897.1:p.Glu261=
NM_001318969.2:c.750G>A (EIF2B4)	NP_001305898.1:p.Glu250=
NM_015636.4:c.1365G>A (EIF2B4)	NP_056451.3:p.Glu455=
NM_172195.4:c.1428G>A (EIF2B4)	NP_751945.2:p.Glu476=