Canonical Allele Identifier: CA425410112
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27587637T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27364770T>G , CM000664.2:g.27364770T>G GRCh38
NC_000002.11:g.27587637T>G , CM000664.1:g.27587637T>G GRCh37
NC_000002.10:g.27441141T>G NCBI36
NG_009305.1:g.10688A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.1320A>C (EIF2B4) MANE Select ENSP00000233552.6:p.Thr440=
ENST00000347454.8:c.1320A>C (EIF2B4) ENSP00000233552.5:p.Thr440=
ENST00000405940.6:c.*586A>C (EIF2B4) ENSP00000384375.2:n.*586A>C
ENST00000445933.6:c.1317A>C (EIF2B4) ENSP00000394397.2:p.Thr439=
ENST00000451130.6:c.1380A>C (EIF2B4) ENSP00000394869.2:p.Thr460=
ENST00000478311.1:n.313A>C (EIF2B4)
ENST00000493344.6:c.1383A>C (EIF2B4) ENSP00000429323.1:p.Thr461=
ENST00000616081.4:c.1311A>C (EIF2B4) ENSP00000477710.1:p.Thr437=
ENST00000622434.4:c.*586A>C (EIF2B4) ENSP00000479991.1:n.*586A>C
NM_001034116.1:c.1320A>C (EIF2B4) NP_001029288.1:p.Thr440=
NM_015636.3:c.1317A>C (EIF2B4) NP_056451.3:p.Thr439=
NM_172195.3:c.1380A>C (EIF2B4) NP_751945.2:p.Thr460=
XM_005264632.1:c.1275A>C (EIF2B4) XP_005264689.1:p.Thr425=
XM_006712132.1:c.1272A>C (EIF2B4) XP_006712195.1:p.Thr424=
XM_011533147.1:c.702A>C (EIF2B4) XP_011531449.1:p.Thr234=
XR_939868.1:n.1772-2654T>G (GTF3C2-AS2)
NM_001318965.1:c.1383A>C (EIF2B4) NP_001305894.1:p.Thr461=
NM_001318966.1:c.1275A>C (EIF2B4) NP_001305895.1:p.Thr425=
NM_001318967.1:c.1227A>C (EIF2B4) NP_001305896.1:p.Thr409=
NM_001318968.1:c.735A>C (EIF2B4) NP_001305897.1:p.Thr245=
NM_001318969.1:c.702A>C (EIF2B4) NP_001305898.1:p.Thr234=
XM_011533147.2:c.702A>C (EIF2B4) XP_011531449.1:p.Thr234=
NM_001034116.2:c.1320A>C (EIF2B4) MANE Select NP_001029288.1:p.Thr440=
NM_001318965.2:c.1383A>C (EIF2B4) NP_001305894.1:p.Thr461=
NM_001318966.2:c.1275A>C (EIF2B4) NP_001305895.1:p.Thr425=
NM_001318967.2:c.1227A>C (EIF2B4) NP_001305896.1:p.Thr409=
NM_001318968.2:c.735A>C (EIF2B4) NP_001305897.1:p.Thr245=
NM_001318969.2:c.702A>C (EIF2B4) NP_001305898.1:p.Thr234=
NM_015636.4:c.1317A>C (EIF2B4) NP_056451.3:p.Thr439=
NM_172195.4:c.1380A>C (EIF2B4) NP_751945.2:p.Thr460=