Canonical Allele Identifier: CA531764803

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1290439364
• gnomAD v2: 2-27587346-TC-T
• gnomAD v4: 2-27364479-TC-T
• MyVariant Identifiers: chr2:g.27587347del (hg19) ; chr2:g.27364480del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364481del , CM000664.2:g.27364481del	GRCh38
NC_000002.11:g.27587348del , CM000664.1:g.27587348del	GRCh37
NC_000002.10:g.27440852del	NCBI36
NG_009305.1:g.10978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1492del (EIF2B4) MANE Select	ENSP00000233552.6:p.Asp498IlefsTer3
ENST00000347454.8:c.1492del (EIF2B4)	ENSP00000233552.5:p.Asp498IlefsTer3
ENST00000405940.6:c.*758del (EIF2B4)	ENSP00000384375.2:n.*758del
ENST00000445933.6:c.1489del (EIF2B4)	ENSP00000394397.2:p.Asp497IlefsTer3
ENST00000451130.6:c.1552del (EIF2B4)	ENSP00000394869.2:p.Asp518IlefsTer3
ENST00000478311.1:n.485del (EIF2B4)
ENST00000493344.6:c.1555del (EIF2B4)	ENSP00000429323.1:p.Asp519IlefsTer3
ENST00000616081.4:c.1483del (EIF2B4)	ENSP00000477710.1:p.Asp495IlefsTer3
ENST00000622434.4:c.*758del (EIF2B4)	ENSP00000479991.1:n.*758del
NM_001034116.1:c.1492del (EIF2B4)	NP_001029288.1:p.Asp498IlefsTer3
NM_015636.3:c.1489del (EIF2B4)	NP_056451.3:p.Asp497IlefsTer3
NM_172195.3:c.1552del (EIF2B4)	NP_751945.2:p.Asp518IlefsTer3
XM_005264632.1:c.1447del (EIF2B4)	XP_005264689.1:p.Asp483IlefsTer3
XM_006712132.1:c.1444del (EIF2B4)	XP_006712195.1:p.Asp482IlefsTer3
XM_011533147.1:c.874del (EIF2B4)	XP_011531449.1:p.Asp292IlefsTer3
XR_939868.1:n.1772-2943del (GTF3C2-AS2)
NM_001318965.1:c.1555del (EIF2B4)	NP_001305894.1:p.Asp519IlefsTer3
NM_001318966.1:c.1447del (EIF2B4)	NP_001305895.1:p.Asp483IlefsTer3
NM_001318967.1:c.1399del (EIF2B4)	NP_001305896.1:p.Asp467IlefsTer3
NM_001318968.1:c.907del (EIF2B4)	NP_001305897.1:p.Asp303IlefsTer3
NM_001318969.1:c.874del (EIF2B4)	NP_001305898.1:p.Asp292IlefsTer3
XM_011533147.2:c.874del (EIF2B4)	XP_011531449.1:p.Asp292IlefsTer3
NM_001034116.2:c.1492del (EIF2B4) MANE Select	NP_001029288.1:p.Asp498IlefsTer3
NM_001318965.2:c.1555del (EIF2B4)	NP_001305894.1:p.Asp519IlefsTer3
NM_001318966.2:c.1447del (EIF2B4)	NP_001305895.1:p.Asp483IlefsTer3
NM_001318967.2:c.1399del (EIF2B4)	NP_001305896.1:p.Asp467IlefsTer3
NM_001318968.2:c.907del (EIF2B4)	NP_001305897.1:p.Asp303IlefsTer3
NM_001318969.2:c.874del (EIF2B4)	NP_001305898.1:p.Asp292IlefsTer3
NM_015636.4:c.1489del (EIF2B4)	NP_056451.3:p.Asp497IlefsTer3
NM_172195.4:c.1552del (EIF2B4)	NP_751945.2:p.Asp518IlefsTer3