Canonical Allele Identifier: CA340161
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4117
dbSNP Id: rs113994033
gnomAD v2: 2-27589747-C-T
gnomAD v3: 2-27366880-C-T
gnomAD v4: 2-27366880-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27366880C>T , CM000664.2:g.27366880C>T GRCh38
NC_000002.11:g.27589747C>T , CM000664.1:g.27589747C>T GRCh37
NC_000002.10:g.27443251C>T NCBI36
NG_009305.1:g.8578G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000347454.9:c.1070G>A (EIF2B4) MANE Select ENSP00000233552.6:p.Arg357Gln
ENST00000347454.8:c.1070G>A (EIF2B4) ENSP00000233552.5:p.Arg357Gln
ENST00000405940.6:c.*336G>A (EIF2B4) ENSP00000384375.2:n.*336G>A
ENST00000417567.1:c.644G>A (EIF2B4)
ENST00000445933.6:c.1067G>A (EIF2B4) ENSP00000394397.2:p.Arg356Gln
ENST00000451130.6:c.1130G>A (EIF2B4) ENSP00000394869.2:p.Arg377Gln
ENST00000475582.5:n.2971G>A (EIF2B4)
ENST00000493344.6:c.1133G>A (EIF2B4) ENSP00000429323.1:p.Arg378Gln
ENST00000616081.4:c.1061G>A (EIF2B4) ENSP00000477710.1:p.Arg354Gln
ENST00000622434.4:c.*336G>A (EIF2B4) ENSP00000479991.1:n.*336G>A
NM_001034116.1:c.1070G>A (EIF2B4) NP_001029288.1:p.Arg357Gln
NM_015636.3:c.1067G>A (EIF2B4) NP_056451.3:p.Arg356Gln
NM_172195.3:c.1130G>A (EIF2B4) NP_751945.2:p.Arg377Gln
XM_005264632.1:c.1025G>A (EIF2B4) XP_005264689.1:p.Arg342Gln
XM_006712132.1:c.1022G>A (EIF2B4) XP_006712195.1:p.Arg341Gln
XM_011533147.1:c.452G>A (EIF2B4) XP_011531449.1:p.Arg151Gln
XR_939868.1:n.1772-544C>T (GTF3C2-AS2)
NM_001318965.1:c.1133G>A (EIF2B4) NP_001305894.1:p.Arg378Gln
NM_001318966.1:c.1025G>A (EIF2B4) NP_001305895.1:p.Arg342Gln
NM_001318967.1:c.977G>A (EIF2B4) NP_001305896.1:p.Arg326Gln
NM_001318968.1:c.485G>A (EIF2B4) NP_001305897.1:p.Arg162Gln
NM_001318969.1:c.452G>A (EIF2B4) NP_001305898.1:p.Arg151Gln
XM_011533147.2:c.452G>A (EIF2B4) XP_011531449.1:p.Arg151Gln
NM_001034116.2:c.1070G>A (EIF2B4) MANE Select NP_001029288.1:p.Arg357Gln
NM_001318965.2:c.1133G>A (EIF2B4) NP_001305894.1:p.Arg378Gln
NM_001318966.2:c.1025G>A (EIF2B4) NP_001305895.1:p.Arg342Gln
NM_001318967.2:c.977G>A (EIF2B4) NP_001305896.1:p.Arg326Gln
NM_001318968.2:c.485G>A (EIF2B4) NP_001305897.1:p.Arg162Gln
NM_001318969.2:c.452G>A (EIF2B4) NP_001305898.1:p.Arg151Gln
NM_015636.4:c.1067G>A (EIF2B4) NP_056451.3:p.Arg356Gln
NM_172195.4:c.1130G>A (EIF2B4) NP_751945.2:p.Arg377Gln