Canonical Allele Identifier: CA346197004

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587641T>G (hg19) ; chr2:g.27364774T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364774T>G , CM000664.2:g.27364774T>G	GRCh38
NC_000002.11:g.27587641T>G , CM000664.1:g.27587641T>G	GRCh37
NC_000002.10:g.27441145T>G	NCBI36
NG_009305.1:g.10684A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1316A>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Glu439Ala
ENST00000347454.8:c.1316A>C (EIF2B4)	ENSP00000233552.5:p.Glu439Ala
ENST00000405940.6:c.*582A>C (EIF2B4)	ENSP00000384375.2:n.*582A>C
ENST00000445933.6:c.1313A>C (EIF2B4)	ENSP00000394397.2:p.Glu438Ala
ENST00000451130.6:c.1376A>C (EIF2B4)	ENSP00000394869.2:p.Glu459Ala
ENST00000478311.1:n.309A>C (EIF2B4)
ENST00000493344.6:c.1379A>C (EIF2B4)	ENSP00000429323.1:p.Glu460Ala
ENST00000616081.4:c.1307A>C (EIF2B4)	ENSP00000477710.1:p.Glu436Ala
ENST00000622434.4:c.*582A>C (EIF2B4)	ENSP00000479991.1:n.*582A>C
NM_001034116.1:c.1316A>C (EIF2B4)	NP_001029288.1:p.Glu439Ala
NM_015636.3:c.1313A>C (EIF2B4)	NP_056451.3:p.Glu438Ala
NM_172195.3:c.1376A>C (EIF2B4)	NP_751945.2:p.Glu459Ala
XM_005264632.1:c.1271A>C (EIF2B4)	XP_005264689.1:p.Glu424Ala
XM_006712132.1:c.1268A>C (EIF2B4)	XP_006712195.1:p.Glu423Ala
XM_011533147.1:c.698A>C (EIF2B4)	XP_011531449.1:p.Glu233Ala
XR_939868.1:n.1772-2650T>G (GTF3C2-AS2)
NM_001318965.1:c.1379A>C (EIF2B4)	NP_001305894.1:p.Glu460Ala
NM_001318966.1:c.1271A>C (EIF2B4)	NP_001305895.1:p.Glu424Ala
NM_001318967.1:c.1223A>C (EIF2B4)	NP_001305896.1:p.Glu408Ala
NM_001318968.1:c.731A>C (EIF2B4)	NP_001305897.1:p.Glu244Ala
NM_001318969.1:c.698A>C (EIF2B4)	NP_001305898.1:p.Glu233Ala
XM_011533147.2:c.698A>C (EIF2B4)	XP_011531449.1:p.Glu233Ala
NM_001034116.2:c.1316A>C (EIF2B4) MANE Select	NP_001029288.1:p.Glu439Ala
NM_001318965.2:c.1379A>C (EIF2B4)	NP_001305894.1:p.Glu460Ala
NM_001318966.2:c.1271A>C (EIF2B4)	NP_001305895.1:p.Glu424Ala
NM_001318967.2:c.1223A>C (EIF2B4)	NP_001305896.1:p.Glu408Ala
NM_001318968.2:c.731A>C (EIF2B4)	NP_001305897.1:p.Glu244Ala
NM_001318969.2:c.698A>C (EIF2B4)	NP_001305898.1:p.Glu233Ala
NM_015636.4:c.1313A>C (EIF2B4)	NP_056451.3:p.Glu438Ala
NM_172195.4:c.1376A>C (EIF2B4)	NP_751945.2:p.Glu459Ala