Canonical Allele Identifier: CA1028682873

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1681889131
• gnomAD v3: 2-27366734-TG-T
• gnomAD v4: 2-27366734-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366736del , CM000664.2:g.27366736del	GRCh38
NC_000002.11:g.27589603del , CM000664.1:g.27589603del	GRCh37
NC_000002.10:g.27443107del	NCBI36
NG_009305.1:g.8723del

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1191+24del (EIF2B4) MANE Select	ENSP00000233552.6:n.1191+24del
ENST00000347454.8:c.1191+24del (EIF2B4)	ENSP00000233552.5:n.1191+24del
ENST00000405940.6:c.*457+24del (EIF2B4)	ENSP00000384375.2:n.*457+24del
ENST00000445933.6:c.1188+24del (EIF2B4)	ENSP00000394397.2:n.1188+24del
ENST00000451130.6:c.1251+24del (EIF2B4)	ENSP00000394869.2:n.1251+24del
ENST00000475582.5:n.3116del (EIF2B4)
ENST00000493344.6:c.1254+24del (EIF2B4)	ENSP00000429323.1:n.1254+24del
ENST00000616081.4:c.1182+24del (EIF2B4)	ENSP00000477710.1:n.1182+24del
ENST00000622434.4:c.*457+24del (EIF2B4)	ENSP00000479991.1:n.*457+24del
NM_001034116.1:c.1191+24del (EIF2B4)	NP_001029288.1:n.1191+24del
NM_015636.3:c.1188+24del (EIF2B4)	NP_056451.3:n.1188+24del
NM_172195.3:c.1251+24del (EIF2B4)	NP_751945.2:n.1251+24del
XM_005264632.1:c.1146+24del (EIF2B4)	XP_005264689.1:n.1146+24del
XM_006712132.1:c.1143+24del (EIF2B4)	XP_006712195.1:n.1143+24del
XM_011533147.1:c.573+24del (EIF2B4)	XP_011531449.1:n.573+24del
XR_939868.1:n.1772-688del (GTF3C2-AS2)
NM_001318965.1:c.1254+24del (EIF2B4)	NP_001305894.1:n.1254+24del
NM_001318966.1:c.1146+24del (EIF2B4)	NP_001305895.1:n.1146+24del
NM_001318967.1:c.1098+24del (EIF2B4)	NP_001305896.1:n.1098+24del
NM_001318968.1:c.606+24del (EIF2B4)	NP_001305897.1:n.606+24del
NM_001318969.1:c.573+24del (EIF2B4)	NP_001305898.1:n.573+24del
XM_011533147.2:c.573+24del (EIF2B4)	XP_011531449.1:n.573+24del
NM_001034116.2:c.1191+24del (EIF2B4) MANE Select	NP_001029288.1:n.1191+24del
NM_001318965.2:c.1254+24del (EIF2B4)	NP_001305894.1:n.1254+24del
NM_001318966.2:c.1146+24del (EIF2B4)	NP_001305895.1:n.1146+24del
NM_001318967.2:c.1098+24del (EIF2B4)	NP_001305896.1:n.1098+24del
NM_001318968.2:c.606+24del (EIF2B4)	NP_001305897.1:n.606+24del
NM_001318969.2:c.573+24del (EIF2B4)	NP_001305898.1:n.573+24del
NM_015636.4:c.1188+24del (EIF2B4)	NP_056451.3:n.1188+24del
NM_172195.4:c.1251+24del (EIF2B4)	NP_751945.2:n.1251+24del