Canonical Allele Identifier: CA1240242849
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Linked Data

dbSNP Id: rs1681704749

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27364619del , CM000664.2:g.27364619del GRCh38
NC_000002.11:g.27587486del , CM000664.1:g.27587486del GRCh37
NC_000002.10:g.27440990del NCBI36
NG_009305.1:g.10841del

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.1373-18del (EIF2B4) MANE Select ENSP00000233552.6:n.1373-18del
ENST00000347454.8:c.1373-18del (EIF2B4) ENSP00000233552.5:n.1373-18del
ENST00000405940.6:c.*639-18del (EIF2B4) ENSP00000384375.2:n.*639-18del
ENST00000445933.6:c.1370-18del (EIF2B4) ENSP00000394397.2:n.1370-18del
ENST00000451130.6:c.1433-18del (EIF2B4) ENSP00000394869.2:n.1433-18del
ENST00000478311.1:n.366-18del (EIF2B4)
ENST00000493344.6:c.1436-18del (EIF2B4) ENSP00000429323.1:n.1436-18del
ENST00000616081.4:c.1364-18del (EIF2B4) ENSP00000477710.1:n.1364-18del
ENST00000622434.4:c.*639-18del (EIF2B4) ENSP00000479991.1:n.*639-18del
NM_001034116.1:c.1373-18del (EIF2B4) NP_001029288.1:n.1373-18del
NM_015636.3:c.1370-18del (EIF2B4) NP_056451.3:n.1370-18del
NM_172195.3:c.1433-18del (EIF2B4) NP_751945.2:n.1433-18del
XM_005264632.1:c.1328-18del (EIF2B4) XP_005264689.1:n.1328-18del
XM_006712132.1:c.1325-18del (EIF2B4) XP_006712195.1:n.1325-18del
XM_011533147.1:c.755-18del (EIF2B4) XP_011531449.1:n.755-18del
XR_939868.1:n.1772-2805del (GTF3C2-AS2)
NM_001318965.1:c.1436-18del (EIF2B4) NP_001305894.1:n.1436-18del
NM_001318966.1:c.1328-18del (EIF2B4) NP_001305895.1:n.1328-18del
NM_001318967.1:c.1280-18del (EIF2B4) NP_001305896.1:n.1280-18del
NM_001318968.1:c.788-18del (EIF2B4) NP_001305897.1:n.788-18del
NM_001318969.1:c.755-18del (EIF2B4) NP_001305898.1:n.755-18del
XM_011533147.2:c.755-18del (EIF2B4) XP_011531449.1:n.755-18del
NM_001034116.2:c.1373-18del (EIF2B4) MANE Select NP_001029288.1:n.1373-18del
NM_001318965.2:c.1436-18del (EIF2B4) NP_001305894.1:n.1436-18del
NM_001318966.2:c.1328-18del (EIF2B4) NP_001305895.1:n.1328-18del
NM_001318967.2:c.1280-18del (EIF2B4) NP_001305896.1:n.1280-18del
NM_001318968.2:c.788-18del (EIF2B4) NP_001305897.1:n.788-18del
NM_001318969.2:c.755-18del (EIF2B4) NP_001305898.1:n.755-18del
NM_015636.4:c.1370-18del (EIF2B4) NP_056451.3:n.1370-18del
NM_172195.4:c.1433-18del (EIF2B4) NP_751945.2:n.1433-18del