Canonical Allele Identifier: CA346197478
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27366771A>T , CM000664.2:g.27366771A>T GRCh38
NC_000002.11:g.27589638A>T , CM000664.1:g.27589638A>T GRCh37
NC_000002.10:g.27443142A>T NCBI36
NG_009305.1:g.8687T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000347454.9:c.1179T>A (EIF2B4) MANE Select ENSP00000233552.6:p.Tyr393Ter
ENST00000347454.8:c.1179T>A (EIF2B4) ENSP00000233552.5:p.Tyr393Ter
ENST00000405940.6:c.*445T>A (EIF2B4) ENSP00000384375.2:n.*445T>A
ENST00000417567.1:c.753T>A (EIF2B4)
ENST00000445933.6:c.1176T>A (EIF2B4) ENSP00000394397.2:p.Tyr392Ter
ENST00000451130.6:c.1239T>A (EIF2B4) ENSP00000394869.2:p.Tyr413Ter
ENST00000475582.5:n.3080T>A (EIF2B4)
ENST00000493344.6:c.1242T>A (EIF2B4) ENSP00000429323.1:p.Tyr414Ter
ENST00000616081.4:c.1170T>A (EIF2B4) ENSP00000477710.1:p.Tyr390Ter
ENST00000622434.4:c.*445T>A (EIF2B4) ENSP00000479991.1:n.*445T>A
NM_001034116.1:c.1179T>A (EIF2B4) NP_001029288.1:p.Tyr393Ter
NM_015636.3:c.1176T>A (EIF2B4) NP_056451.3:p.Tyr392Ter
NM_172195.3:c.1239T>A (EIF2B4) NP_751945.2:p.Tyr413Ter
XM_005264632.1:c.1134T>A (EIF2B4) XP_005264689.1:p.Tyr378Ter
XM_006712132.1:c.1131T>A (EIF2B4) XP_006712195.1:p.Tyr377Ter
XM_011533147.1:c.561T>A (EIF2B4) XP_011531449.1:p.Tyr187Ter
XR_939868.1:n.1772-653A>T (GTF3C2-AS2)
NM_001318965.1:c.1242T>A (EIF2B4) NP_001305894.1:p.Tyr414Ter
NM_001318966.1:c.1134T>A (EIF2B4) NP_001305895.1:p.Tyr378Ter
NM_001318967.1:c.1086T>A (EIF2B4) NP_001305896.1:p.Tyr362Ter
NM_001318968.1:c.594T>A (EIF2B4) NP_001305897.1:p.Tyr198Ter
NM_001318969.1:c.561T>A (EIF2B4) NP_001305898.1:p.Tyr187Ter
XM_011533147.2:c.561T>A (EIF2B4) XP_011531449.1:p.Tyr187Ter
NM_001034116.2:c.1179T>A (EIF2B4) MANE Select NP_001029288.1:p.Tyr393Ter
NM_001318965.2:c.1242T>A (EIF2B4) NP_001305894.1:p.Tyr414Ter
NM_001318966.2:c.1134T>A (EIF2B4) NP_001305895.1:p.Tyr378Ter
NM_001318967.2:c.1086T>A (EIF2B4) NP_001305896.1:p.Tyr362Ter
NM_001318968.2:c.594T>A (EIF2B4) NP_001305897.1:p.Tyr198Ter
NM_001318969.2:c.561T>A (EIF2B4) NP_001305898.1:p.Tyr187Ter
NM_015636.4:c.1176T>A (EIF2B4) NP_056451.3:p.Tyr392Ter
NM_172195.4:c.1239T>A (EIF2B4) NP_751945.2:p.Tyr413Ter