Canonical Allele Identifier: CA1576609
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Linked Data

dbSNP Id: rs377146994
gnomAD v2: 2-27587674-C-T
gnomAD v3: 2-27364807-C-T
gnomAD v4: 2-27364807-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27364807C>T , CM000664.2:g.27364807C>T GRCh38
NC_000002.11:g.27587674C>T , CM000664.1:g.27587674C>T GRCh37
NC_000002.10:g.27441178C>T NCBI36
NG_009305.1:g.10651G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.1283G>A (EIF2B4) MANE Select ENSP00000233552.6:p.Arg428Gln
ENST00000347454.8:c.1283G>A (EIF2B4) ENSP00000233552.5:p.Arg428Gln
ENST00000405940.6:c.*549G>A (EIF2B4) ENSP00000384375.2:n.*549G>A
ENST00000445933.6:c.1280G>A (EIF2B4) ENSP00000394397.2:p.Arg427Gln
ENST00000451130.6:c.1343G>A (EIF2B4) ENSP00000394869.2:p.Arg448Gln
ENST00000478311.1:n.276G>A (EIF2B4)
ENST00000493344.6:c.1346G>A (EIF2B4) ENSP00000429323.1:p.Arg449Gln
ENST00000616081.4:c.1274G>A (EIF2B4) ENSP00000477710.1:p.Arg425Gln
ENST00000622434.4:c.*549G>A (EIF2B4) ENSP00000479991.1:n.*549G>A
NM_001034116.1:c.1283G>A (EIF2B4) NP_001029288.1:p.Arg428Gln
NM_015636.3:c.1280G>A (EIF2B4) NP_056451.3:p.Arg427Gln
NM_172195.3:c.1343G>A (EIF2B4) NP_751945.2:p.Arg448Gln
XM_005264632.1:c.1238G>A (EIF2B4) XP_005264689.1:p.Arg413Gln
XM_006712132.1:c.1235G>A (EIF2B4) XP_006712195.1:p.Arg412Gln
XM_011533147.1:c.665G>A (EIF2B4) XP_011531449.1:p.Arg222Gln
XR_939868.1:n.1772-2617C>T (GTF3C2-AS2)
NM_001318965.1:c.1346G>A (EIF2B4) NP_001305894.1:p.Arg449Gln
NM_001318966.1:c.1238G>A (EIF2B4) NP_001305895.1:p.Arg413Gln
NM_001318967.1:c.1190G>A (EIF2B4) NP_001305896.1:p.Arg397Gln
NM_001318968.1:c.698G>A (EIF2B4) NP_001305897.1:p.Arg233Gln
NM_001318969.1:c.665G>A (EIF2B4) NP_001305898.1:p.Arg222Gln
XM_011533147.2:c.665G>A (EIF2B4) XP_011531449.1:p.Arg222Gln
NM_001034116.2:c.1283G>A (EIF2B4) MANE Select NP_001029288.1:p.Arg428Gln
NM_001318965.2:c.1346G>A (EIF2B4) NP_001305894.1:p.Arg449Gln
NM_001318966.2:c.1238G>A (EIF2B4) NP_001305895.1:p.Arg413Gln
NM_001318967.2:c.1190G>A (EIF2B4) NP_001305896.1:p.Arg397Gln
NM_001318968.2:c.698G>A (EIF2B4) NP_001305897.1:p.Arg233Gln
NM_001318969.2:c.665G>A (EIF2B4) NP_001305898.1:p.Arg222Gln
NM_015636.4:c.1280G>A (EIF2B4) NP_056451.3:p.Arg427Gln
NM_172195.4:c.1343G>A (EIF2B4) NP_751945.2:p.Arg448Gln