Canonical Allele Identifier: CA425606600

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27589698T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366831T>A , CM000664.2:g.27366831T>A	GRCh38
NC_000002.11:g.27589698T>A , CM000664.1:g.27589698T>A	GRCh37
NC_000002.10:g.27443202T>A	NCBI36
NG_009305.1:g.8627A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1119A>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu373=
ENST00000347454.8:c.1119A>T (EIF2B4)	ENSP00000233552.5:p.Leu373=
ENST00000405940.6:c.*385A>T (EIF2B4)	ENSP00000384375.2:n.*385A>T
ENST00000417567.1:c.693A>T (EIF2B4)
ENST00000445933.6:c.1116A>T (EIF2B4)	ENSP00000394397.2:p.Leu372=
ENST00000451130.6:c.1179A>T (EIF2B4)	ENSP00000394869.2:p.Leu393=
ENST00000475582.5:n.3020A>T (EIF2B4)
ENST00000493344.6:c.1182A>T (EIF2B4)	ENSP00000429323.1:p.Leu394=
ENST00000616081.4:c.1110A>T (EIF2B4)	ENSP00000477710.1:p.Leu370=
ENST00000622434.4:c.*385A>T (EIF2B4)	ENSP00000479991.1:n.*385A>T
NM_001034116.1:c.1119A>T (EIF2B4)	NP_001029288.1:p.Leu373=
NM_015636.3:c.1116A>T (EIF2B4)	NP_056451.3:p.Leu372=
NM_172195.3:c.1179A>T (EIF2B4)	NP_751945.2:p.Leu393=
XM_005264632.1:c.1074A>T (EIF2B4)	XP_005264689.1:p.Leu358=
XM_006712132.1:c.1071A>T (EIF2B4)	XP_006712195.1:p.Leu357=
XM_011533147.1:c.501A>T (EIF2B4)	XP_011531449.1:p.Leu167=
XR_939868.1:n.1772-593T>A (GTF3C2-AS2)
NM_001318965.1:c.1182A>T (EIF2B4)	NP_001305894.1:p.Leu394=
NM_001318966.1:c.1074A>T (EIF2B4)	NP_001305895.1:p.Leu358=
NM_001318967.1:c.1026A>T (EIF2B4)	NP_001305896.1:p.Leu342=
NM_001318968.1:c.534A>T (EIF2B4)	NP_001305897.1:p.Leu178=
NM_001318969.1:c.501A>T (EIF2B4)	NP_001305898.1:p.Leu167=
XM_011533147.2:c.501A>T (EIF2B4)	XP_011531449.1:p.Leu167=
NM_001034116.2:c.1119A>T (EIF2B4) MANE Select	NP_001029288.1:p.Leu373=
NM_001318965.2:c.1182A>T (EIF2B4)	NP_001305894.1:p.Leu394=
NM_001318966.2:c.1074A>T (EIF2B4)	NP_001305895.1:p.Leu358=
NM_001318967.2:c.1026A>T (EIF2B4)	NP_001305896.1:p.Leu342=
NM_001318968.2:c.534A>T (EIF2B4)	NP_001305897.1:p.Leu178=
NM_001318969.2:c.501A>T (EIF2B4)	NP_001305898.1:p.Leu167=
NM_015636.4:c.1116A>T (EIF2B4)	NP_056451.3:p.Leu372=
NM_172195.4:c.1179A>T (EIF2B4)	NP_751945.2:p.Leu393=