Canonical Allele Identifier: CA2840906978
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27364595dup , CM000664.2:g.27364595dup GRCh38
NC_000002.11:g.27587462dup , CM000664.1:g.27587462dup GRCh37
NC_000002.10:g.27440966dup NCBI36
NG_009305.1:g.10865dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.1379dup (EIF2B4) MANE Select ENSP00000233552.6:p.Asp461Ter
ENST00000347454.8:c.1379dup (EIF2B4) ENSP00000233552.5:p.Asp461Ter
ENST00000405940.6:c.*645dup (EIF2B4) ENSP00000384375.2:n.*645dup
ENST00000445933.6:c.1376dup (EIF2B4) ENSP00000394397.2:p.Asp460Ter
ENST00000451130.6:c.1439dup (EIF2B4) ENSP00000394869.2:p.Asp481Ter
ENST00000478311.1:n.372dup (EIF2B4)
ENST00000493344.6:c.1442dup (EIF2B4) ENSP00000429323.1:p.Asp482Ter
ENST00000616081.4:c.1370dup (EIF2B4) ENSP00000477710.1:p.Asp458Ter
ENST00000622434.4:c.*645dup (EIF2B4) ENSP00000479991.1:n.*645dup
NM_001034116.1:c.1379dup (EIF2B4) NP_001029288.1:p.Asp461Ter
NM_015636.3:c.1376dup (EIF2B4) NP_056451.3:p.Asp460Ter
NM_172195.3:c.1439dup (EIF2B4) NP_751945.2:p.Asp481Ter
XM_005264632.1:c.1334dup (EIF2B4) XP_005264689.1:p.Asp446Ter
XM_006712132.1:c.1331dup (EIF2B4) XP_006712195.1:p.Asp445Ter
XM_011533147.1:c.761dup (EIF2B4) XP_011531449.1:p.Asp255Ter
XR_939868.1:n.1772-2829dup (GTF3C2-AS2)
NM_001318965.1:c.1442dup (EIF2B4) NP_001305894.1:p.Asp482Ter
NM_001318966.1:c.1334dup (EIF2B4) NP_001305895.1:p.Asp446Ter
NM_001318967.1:c.1286dup (EIF2B4) NP_001305896.1:p.Asp430Ter
NM_001318968.1:c.794dup (EIF2B4) NP_001305897.1:p.Asp266Ter
NM_001318969.1:c.761dup (EIF2B4) NP_001305898.1:p.Asp255Ter
XM_011533147.2:c.761dup (EIF2B4) XP_011531449.1:p.Asp255Ter
NM_001034116.2:c.1379dup (EIF2B4) MANE Select NP_001029288.1:p.Asp461Ter
NM_001318965.2:c.1442dup (EIF2B4) NP_001305894.1:p.Asp482Ter
NM_001318966.2:c.1334dup (EIF2B4) NP_001305895.1:p.Asp446Ter
NM_001318967.2:c.1286dup (EIF2B4) NP_001305896.1:p.Asp430Ter
NM_001318968.2:c.794dup (EIF2B4) NP_001305897.1:p.Asp266Ter
NM_001318969.2:c.761dup (EIF2B4) NP_001305898.1:p.Asp255Ter
NM_015636.4:c.1376dup (EIF2B4) NP_056451.3:p.Asp460Ter
NM_172195.4:c.1439dup (EIF2B4) NP_751945.2:p.Asp481Ter