Canonical Allele Identifier: CA2658336140
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Linked Data

gnomAD v4: 2-27364623-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27364623A>C , CM000664.2:g.27364623A>C GRCh38
NC_000002.11:g.27587490A>C , CM000664.1:g.27587490A>C GRCh37
NC_000002.10:g.27440994A>C NCBI36
NG_009305.1:g.10835T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.1373-24T>G (EIF2B4) MANE Select ENSP00000233552.6:n.1373-24T>G
ENST00000347454.8:c.1373-24T>G (EIF2B4) ENSP00000233552.5:n.1373-24T>G
ENST00000405940.6:c.*639-24T>G (EIF2B4) ENSP00000384375.2:n.*639-24T>G
ENST00000445933.6:c.1370-24T>G (EIF2B4) ENSP00000394397.2:n.1370-24T>G
ENST00000451130.6:c.1433-24T>G (EIF2B4) ENSP00000394869.2:n.1433-24T>G
ENST00000478311.1:n.366-24T>G (EIF2B4)
ENST00000493344.6:c.1436-24T>G (EIF2B4) ENSP00000429323.1:n.1436-24T>G
ENST00000616081.4:c.1364-24T>G (EIF2B4) ENSP00000477710.1:n.1364-24T>G
ENST00000622434.4:c.*639-24T>G (EIF2B4) ENSP00000479991.1:n.*639-24T>G
NM_001034116.1:c.1373-24T>G (EIF2B4) NP_001029288.1:n.1373-24T>G
NM_015636.3:c.1370-24T>G (EIF2B4) NP_056451.3:n.1370-24T>G
NM_172195.3:c.1433-24T>G (EIF2B4) NP_751945.2:n.1433-24T>G
XM_005264632.1:c.1328-24T>G (EIF2B4) XP_005264689.1:n.1328-24T>G
XM_006712132.1:c.1325-24T>G (EIF2B4) XP_006712195.1:n.1325-24T>G
XM_011533147.1:c.755-24T>G (EIF2B4) XP_011531449.1:n.755-24T>G
XR_939868.1:n.1772-2801A>C (GTF3C2-AS2)
NM_001318965.1:c.1436-24T>G (EIF2B4) NP_001305894.1:n.1436-24T>G
NM_001318966.1:c.1328-24T>G (EIF2B4) NP_001305895.1:n.1328-24T>G
NM_001318967.1:c.1280-24T>G (EIF2B4) NP_001305896.1:n.1280-24T>G
NM_001318968.1:c.788-24T>G (EIF2B4) NP_001305897.1:n.788-24T>G
NM_001318969.1:c.755-24T>G (EIF2B4) NP_001305898.1:n.755-24T>G
XM_011533147.2:c.755-24T>G (EIF2B4) XP_011531449.1:n.755-24T>G
NM_001034116.2:c.1373-24T>G (EIF2B4) MANE Select NP_001029288.1:n.1373-24T>G
NM_001318965.2:c.1436-24T>G (EIF2B4) NP_001305894.1:n.1436-24T>G
NM_001318966.2:c.1328-24T>G (EIF2B4) NP_001305895.1:n.1328-24T>G
NM_001318967.2:c.1280-24T>G (EIF2B4) NP_001305896.1:n.1280-24T>G
NM_001318968.2:c.788-24T>G (EIF2B4) NP_001305897.1:n.788-24T>G
NM_001318969.2:c.755-24T>G (EIF2B4) NP_001305898.1:n.755-24T>G
NM_015636.4:c.1370-24T>G (EIF2B4) NP_056451.3:n.1370-24T>G
NM_172195.4:c.1433-24T>G (EIF2B4) NP_751945.2:n.1433-24T>G