Canonical Allele Identifier: CA425410429
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27587751T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27364884T>G , CM000664.2:g.27364884T>G GRCh38
NC_000002.11:g.27587751T>G , CM000664.1:g.27587751T>G GRCh37
NC_000002.10:g.27441255T>G NCBI36
NG_009305.1:g.10574A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.1206A>C (EIF2B4) MANE Select ENSP00000233552.6:p.Leu402=
ENST00000347454.8:c.1206A>C (EIF2B4) ENSP00000233552.5:p.Leu402=
ENST00000405940.6:c.*472A>C (EIF2B4) ENSP00000384375.2:n.*472A>C
ENST00000445933.6:c.1203A>C (EIF2B4) ENSP00000394397.2:p.Leu401=
ENST00000451130.6:c.1266A>C (EIF2B4) ENSP00000394869.2:p.Leu422=
ENST00000478311.1:n.199A>C (EIF2B4)
ENST00000493344.6:c.1269A>C (EIF2B4) ENSP00000429323.1:p.Leu423=
ENST00000616081.4:c.1197A>C (EIF2B4) ENSP00000477710.1:p.Leu399=
ENST00000622434.4:c.*472A>C (EIF2B4) ENSP00000479991.1:n.*472A>C
NM_001034116.1:c.1206A>C (EIF2B4) NP_001029288.1:p.Leu402=
NM_015636.3:c.1203A>C (EIF2B4) NP_056451.3:p.Leu401=
NM_172195.3:c.1266A>C (EIF2B4) NP_751945.2:p.Leu422=
XM_005264632.1:c.1161A>C (EIF2B4) XP_005264689.1:p.Leu387=
XM_006712132.1:c.1158A>C (EIF2B4) XP_006712195.1:p.Leu386=
XM_011533147.1:c.588A>C (EIF2B4) XP_011531449.1:p.Leu196=
XR_939868.1:n.1772-2540T>G (GTF3C2-AS2)
NM_001318965.1:c.1269A>C (EIF2B4) NP_001305894.1:p.Leu423=
NM_001318966.1:c.1161A>C (EIF2B4) NP_001305895.1:p.Leu387=
NM_001318967.1:c.1113A>C (EIF2B4) NP_001305896.1:p.Leu371=
NM_001318968.1:c.621A>C (EIF2B4) NP_001305897.1:p.Leu207=
NM_001318969.1:c.588A>C (EIF2B4) NP_001305898.1:p.Leu196=
XM_011533147.2:c.588A>C (EIF2B4) XP_011531449.1:p.Leu196=
NM_001034116.2:c.1206A>C (EIF2B4) MANE Select NP_001029288.1:p.Leu402=
NM_001318965.2:c.1269A>C (EIF2B4) NP_001305894.1:p.Leu423=
NM_001318966.2:c.1161A>C (EIF2B4) NP_001305895.1:p.Leu387=
NM_001318967.2:c.1113A>C (EIF2B4) NP_001305896.1:p.Leu371=
NM_001318968.2:c.621A>C (EIF2B4) NP_001305897.1:p.Leu207=
NM_001318969.2:c.588A>C (EIF2B4) NP_001305898.1:p.Leu196=
NM_015636.4:c.1203A>C (EIF2B4) NP_056451.3:p.Leu401=
NM_172195.4:c.1266A>C (EIF2B4) NP_751945.2:p.Leu422=