Canonical Allele Identifier: CA2658336180

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27364824-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364827_27364828del , CM000664.2:g.27364827_27364828del	GRCh38
NC_000002.11:g.27587694_27587695del , CM000664.1:g.27587694_27587695del	GRCh37
NC_000002.10:g.27441198_27441199del	NCBI36
NG_009305.1:g.10632_10633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1264_1265del (EIF2B4) MANE Select	ENSP00000233552.6:p.Gln422ValfsTer9
ENST00000347454.8:c.1264_1265del (EIF2B4)	ENSP00000233552.5:p.Gln422ValfsTer9
ENST00000405940.6:c.*530_*531del (EIF2B4)	ENSP00000384375.2:n.*530_*531del
ENST00000445933.6:c.1261_1262del (EIF2B4)	ENSP00000394397.2:p.Gln421ValfsTer9
ENST00000451130.6:c.1324_1325del (EIF2B4)	ENSP00000394869.2:p.Gln442ValfsTer9
ENST00000478311.1:n.257_258del (EIF2B4)
ENST00000493344.6:c.1327_1328del (EIF2B4)	ENSP00000429323.1:p.Gln443ValfsTer9
ENST00000616081.4:c.1255_1256del (EIF2B4)	ENSP00000477710.1:p.Gln419ValfsTer9
ENST00000622434.4:c.*530_*531del (EIF2B4)	ENSP00000479991.1:n.*530_*531del
NM_001034116.1:c.1264_1265del (EIF2B4)	NP_001029288.1:p.Gln422ValfsTer9
NM_015636.3:c.1261_1262del (EIF2B4)	NP_056451.3:p.Gln421ValfsTer9
NM_172195.3:c.1324_1325del (EIF2B4)	NP_751945.2:p.Gln442ValfsTer9
XM_005264632.1:c.1219_1220del (EIF2B4)	XP_005264689.1:p.Gln407ValfsTer9
XM_006712132.1:c.1216_1217del (EIF2B4)	XP_006712195.1:p.Gln406ValfsTer9
XM_011533147.1:c.646_647del (EIF2B4)	XP_011531449.1:p.Gln216ValfsTer9
XR_939868.1:n.1772-2597_1772-2596del (GTF3C2-AS2)
NM_001318965.1:c.1327_1328del (EIF2B4)	NP_001305894.1:p.Gln443ValfsTer9
NM_001318966.1:c.1219_1220del (EIF2B4)	NP_001305895.1:p.Gln407ValfsTer9
NM_001318967.1:c.1171_1172del (EIF2B4)	NP_001305896.1:p.Gln391ValfsTer9
NM_001318968.1:c.679_680del (EIF2B4)	NP_001305897.1:p.Gln227ValfsTer9
NM_001318969.1:c.646_647del (EIF2B4)	NP_001305898.1:p.Gln216ValfsTer9
XM_011533147.2:c.646_647del (EIF2B4)	XP_011531449.1:p.Gln216ValfsTer9
NM_001034116.2:c.1264_1265del (EIF2B4) MANE Select	NP_001029288.1:p.Gln422ValfsTer9
NM_001318965.2:c.1327_1328del (EIF2B4)	NP_001305894.1:p.Gln443ValfsTer9
NM_001318966.2:c.1219_1220del (EIF2B4)	NP_001305895.1:p.Gln407ValfsTer9
NM_001318967.2:c.1171_1172del (EIF2B4)	NP_001305896.1:p.Gln391ValfsTer9
NM_001318968.2:c.679_680del (EIF2B4)	NP_001305897.1:p.Gln227ValfsTer9
NM_001318969.2:c.646_647del (EIF2B4)	NP_001305898.1:p.Gln216ValfsTer9
NM_015636.4:c.1261_1262del (EIF2B4)	NP_056451.3:p.Gln421ValfsTer9
NM_172195.4:c.1324_1325del (EIF2B4)	NP_751945.2:p.Gln442ValfsTer9