Canonical Allele Identifier: CA2658336178

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27364791-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364793del , CM000664.2:g.27364793del	GRCh38
NC_000002.11:g.27587660del , CM000664.1:g.27587660del	GRCh37
NC_000002.10:g.27441164del	NCBI36
NG_009305.1:g.10666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1298del (EIF2B4) MANE Select	ENSP00000233552.6:p.Pro433GlnfsTer25
ENST00000347454.8:c.1298del (EIF2B4)	ENSP00000233552.5:p.Pro433GlnfsTer25
ENST00000405940.6:c.*564del (EIF2B4)	ENSP00000384375.2:n.*564del
ENST00000445933.6:c.1295del (EIF2B4)	ENSP00000394397.2:p.Pro432GlnfsTer25
ENST00000451130.6:c.1358del (EIF2B4)	ENSP00000394869.2:p.Pro453GlnfsTer25
ENST00000478311.1:n.291del (EIF2B4)
ENST00000493344.6:c.1361del (EIF2B4)	ENSP00000429323.1:p.Pro454GlnfsTer25
ENST00000616081.4:c.1289del (EIF2B4)	ENSP00000477710.1:p.Pro430GlnfsTer25
ENST00000622434.4:c.*564del (EIF2B4)	ENSP00000479991.1:n.*564del
NM_001034116.1:c.1298del (EIF2B4)	NP_001029288.1:p.Pro433GlnfsTer25
NM_015636.3:c.1295del (EIF2B4)	NP_056451.3:p.Pro432GlnfsTer25
NM_172195.3:c.1358del (EIF2B4)	NP_751945.2:p.Pro453GlnfsTer25
XM_005264632.1:c.1253del (EIF2B4)	XP_005264689.1:p.Pro418GlnfsTer25
XM_006712132.1:c.1250del (EIF2B4)	XP_006712195.1:p.Pro417GlnfsTer25
XM_011533147.1:c.680del (EIF2B4)	XP_011531449.1:p.Pro227GlnfsTer25
XR_939868.1:n.1772-2631del (GTF3C2-AS2)
NM_001318965.1:c.1361del (EIF2B4)	NP_001305894.1:p.Pro454GlnfsTer25
NM_001318966.1:c.1253del (EIF2B4)	NP_001305895.1:p.Pro418GlnfsTer25
NM_001318967.1:c.1205del (EIF2B4)	NP_001305896.1:p.Pro402GlnfsTer25
NM_001318968.1:c.713del (EIF2B4)	NP_001305897.1:p.Pro238GlnfsTer25
NM_001318969.1:c.680del (EIF2B4)	NP_001305898.1:p.Pro227GlnfsTer25
XM_011533147.2:c.680del (EIF2B4)	XP_011531449.1:p.Pro227GlnfsTer25
NM_001034116.2:c.1298del (EIF2B4) MANE Select	NP_001029288.1:p.Pro433GlnfsTer25
NM_001318965.2:c.1361del (EIF2B4)	NP_001305894.1:p.Pro454GlnfsTer25
NM_001318966.2:c.1253del (EIF2B4)	NP_001305895.1:p.Pro418GlnfsTer25
NM_001318967.2:c.1205del (EIF2B4)	NP_001305896.1:p.Pro402GlnfsTer25
NM_001318968.2:c.713del (EIF2B4)	NP_001305897.1:p.Pro238GlnfsTer25
NM_001318969.2:c.680del (EIF2B4)	NP_001305898.1:p.Pro227GlnfsTer25
NM_015636.4:c.1295del (EIF2B4)	NP_056451.3:p.Pro432GlnfsTer25
NM_172195.4:c.1358del (EIF2B4)	NP_751945.2:p.Pro453GlnfsTer25