Canonical Allele Identifier: CA425410364
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27587721C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27364854C>A , CM000664.2:g.27364854C>A GRCh38
NC_000002.11:g.27587721C>A , CM000664.1:g.27587721C>A GRCh37
NC_000002.10:g.27441225C>A NCBI36
NG_009305.1:g.10604G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.1236G>T (EIF2B4) MANE Select ENSP00000233552.6:p.Gly412=
ENST00000347454.8:c.1236G>T (EIF2B4) ENSP00000233552.5:p.Gly412=
ENST00000405940.6:c.*502G>T (EIF2B4) ENSP00000384375.2:n.*502G>T
ENST00000445933.6:c.1233G>T (EIF2B4) ENSP00000394397.2:p.Gly411=
ENST00000451130.6:c.1296G>T (EIF2B4) ENSP00000394869.2:p.Gly432=
ENST00000478311.1:n.229G>T (EIF2B4)
ENST00000493344.6:c.1299G>T (EIF2B4) ENSP00000429323.1:p.Gly433=
ENST00000616081.4:c.1227G>T (EIF2B4) ENSP00000477710.1:p.Gly409=
ENST00000622434.4:c.*502G>T (EIF2B4) ENSP00000479991.1:n.*502G>T
NM_001034116.1:c.1236G>T (EIF2B4) NP_001029288.1:p.Gly412=
NM_015636.3:c.1233G>T (EIF2B4) NP_056451.3:p.Gly411=
NM_172195.3:c.1296G>T (EIF2B4) NP_751945.2:p.Gly432=
XM_005264632.1:c.1191G>T (EIF2B4) XP_005264689.1:p.Gly397=
XM_006712132.1:c.1188G>T (EIF2B4) XP_006712195.1:p.Gly396=
XM_011533147.1:c.618G>T (EIF2B4) XP_011531449.1:p.Gly206=
XR_939868.1:n.1772-2570C>A (GTF3C2-AS2)
NM_001318965.1:c.1299G>T (EIF2B4) NP_001305894.1:p.Gly433=
NM_001318966.1:c.1191G>T (EIF2B4) NP_001305895.1:p.Gly397=
NM_001318967.1:c.1143G>T (EIF2B4) NP_001305896.1:p.Gly381=
NM_001318968.1:c.651G>T (EIF2B4) NP_001305897.1:p.Gly217=
NM_001318969.1:c.618G>T (EIF2B4) NP_001305898.1:p.Gly206=
XM_011533147.2:c.618G>T (EIF2B4) XP_011531449.1:p.Gly206=
NM_001034116.2:c.1236G>T (EIF2B4) MANE Select NP_001029288.1:p.Gly412=
NM_001318965.2:c.1299G>T (EIF2B4) NP_001305894.1:p.Gly433=
NM_001318966.2:c.1191G>T (EIF2B4) NP_001305895.1:p.Gly397=
NM_001318967.2:c.1143G>T (EIF2B4) NP_001305896.1:p.Gly381=
NM_001318968.2:c.651G>T (EIF2B4) NP_001305897.1:p.Gly217=
NM_001318969.2:c.618G>T (EIF2B4) NP_001305898.1:p.Gly206=
NM_015636.4:c.1233G>T (EIF2B4) NP_056451.3:p.Gly411=
NM_172195.4:c.1296G>T (EIF2B4) NP_751945.2:p.Gly432=