Canonical Allele Identifier: CA1240242808
Community Standard Title: NM_001034116.2(EIF2B4):c.1465T= (p.Tyr489=)
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27364507A= , CM000664.2:g.27364507A= GRCh38
NC_000002.11:g.27587374A= , CM000664.1:g.27587374A= GRCh37
NC_000002.10:g.27440878A= NCBI36
NG_009305.1:g.10951T=

Transcript Alleles

HGVS Amino-acid Change
NM_001034116.2:c.1465T= (EIF2B4) MANE Select NP_001029288.1:p.Tyr489=
ENST00000347454.9:c.1465T= (EIF2B4) MANE Select ENSP00000233552.6:p.Tyr489=
NM_001034116.1:c.1465T= (EIF2B4) NP_001029288.1:p.Tyr489=
NM_001318965.1:c.1528T= (EIF2B4) NP_001305894.1:p.Tyr510=
NM_001318965.2:c.1528T= (EIF2B4) NP_001305894.1:p.Tyr510=
NM_001318966.1:c.1420T= (EIF2B4) NP_001305895.1:p.Tyr474=
NM_001318966.2:c.1420T= (EIF2B4) NP_001305895.1:p.Tyr474=
NM_001318967.1:c.1372T= (EIF2B4) NP_001305896.1:p.Tyr458=
NM_001318967.2:c.1372T= (EIF2B4) NP_001305896.1:p.Tyr458=
NM_001318968.1:c.880T= (EIF2B4) NP_001305897.1:p.Tyr294=
NM_001318968.2:c.880T= (EIF2B4) NP_001305897.1:p.Tyr294=
NM_001318969.1:c.847T= (EIF2B4) NP_001305898.1:p.Tyr283=
NM_001318969.2:c.847T= (EIF2B4) NP_001305898.1:p.Tyr283=
NM_015636.3:c.1462T= (EIF2B4) NP_056451.3:p.Tyr488=
NM_015636.4:c.1462T= (EIF2B4) NP_056451.3:p.Tyr488=
NM_172195.3:c.1525T= (EIF2B4) NP_751945.2:p.Tyr509=
NM_172195.4:c.1525T= (EIF2B4) NP_751945.2:p.Tyr509=
ENST00000347454.8:c.1465T= (EIF2B4) ENSP00000233552.5:p.Tyr489=
ENST00000405940.6:c.*731T= (EIF2B4) ENSP00000384375.2:n.*731T=
ENST00000445933.6:c.1462T= (EIF2B4) ENSP00000394397.2:p.Tyr488=
ENST00000451130.6:c.1525T= (EIF2B4) ENSP00000394869.2:p.Tyr509=
ENST00000478311.1:n.458T= (EIF2B4)
ENST00000493344.6:c.1528T= (EIF2B4) ENSP00000429323.1:p.Tyr510=
ENST00000616081.4:c.1456T= (EIF2B4) ENSP00000477710.1:p.Tyr486=
ENST00000622434.4:c.*731T= (EIF2B4) ENSP00000479991.1:n.*731T=
XM_005264632.1:c.1420T= (EIF2B4) XP_005264689.1:p.Tyr474=
XM_006712132.1:c.1417T= (EIF2B4) XP_006712195.1:p.Tyr473=
XM_011533147.1:c.847T= (EIF2B4) XP_011531449.1:p.Tyr283=
XM_011533147.2:c.847T= (EIF2B4) XP_011531449.1:p.Tyr283=
XR_939868.1:n.1772-2917A= (GTF3C2-AS2)