Canonical Allele Identifier: CA425410374
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27587727G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27364860G>T , CM000664.2:g.27364860G>T GRCh38
NC_000002.11:g.27587727G>T , CM000664.1:g.27587727G>T GRCh37
NC_000002.10:g.27441231G>T NCBI36
NG_009305.1:g.10598C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.1230C>A (EIF2B4) MANE Select ENSP00000233552.6:p.Ala410=
ENST00000347454.8:c.1230C>A (EIF2B4) ENSP00000233552.5:p.Ala410=
ENST00000405940.6:c.*496C>A (EIF2B4) ENSP00000384375.2:n.*496C>A
ENST00000445933.6:c.1227C>A (EIF2B4) ENSP00000394397.2:p.Ala409=
ENST00000451130.6:c.1290C>A (EIF2B4) ENSP00000394869.2:p.Ala430=
ENST00000478311.1:n.223C>A (EIF2B4)
ENST00000493344.6:c.1293C>A (EIF2B4) ENSP00000429323.1:p.Ala431=
ENST00000616081.4:c.1221C>A (EIF2B4) ENSP00000477710.1:p.Ala407=
ENST00000622434.4:c.*496C>A (EIF2B4) ENSP00000479991.1:n.*496C>A
NM_001034116.1:c.1230C>A (EIF2B4) NP_001029288.1:p.Ala410=
NM_015636.3:c.1227C>A (EIF2B4) NP_056451.3:p.Ala409=
NM_172195.3:c.1290C>A (EIF2B4) NP_751945.2:p.Ala430=
XM_005264632.1:c.1185C>A (EIF2B4) XP_005264689.1:p.Ala395=
XM_006712132.1:c.1182C>A (EIF2B4) XP_006712195.1:p.Ala394=
XM_011533147.1:c.612C>A (EIF2B4) XP_011531449.1:p.Ala204=
XR_939868.1:n.1772-2564G>T (GTF3C2-AS2)
NM_001318965.1:c.1293C>A (EIF2B4) NP_001305894.1:p.Ala431=
NM_001318966.1:c.1185C>A (EIF2B4) NP_001305895.1:p.Ala395=
NM_001318967.1:c.1137C>A (EIF2B4) NP_001305896.1:p.Ala379=
NM_001318968.1:c.645C>A (EIF2B4) NP_001305897.1:p.Ala215=
NM_001318969.1:c.612C>A (EIF2B4) NP_001305898.1:p.Ala204=
XM_011533147.2:c.612C>A (EIF2B4) XP_011531449.1:p.Ala204=
NM_001034116.2:c.1230C>A (EIF2B4) MANE Select NP_001029288.1:p.Ala410=
NM_001318965.2:c.1293C>A (EIF2B4) NP_001305894.1:p.Ala431=
NM_001318966.2:c.1185C>A (EIF2B4) NP_001305895.1:p.Ala395=
NM_001318967.2:c.1137C>A (EIF2B4) NP_001305896.1:p.Ala379=
NM_001318968.2:c.645C>A (EIF2B4) NP_001305897.1:p.Ala215=
NM_001318969.2:c.612C>A (EIF2B4) NP_001305898.1:p.Ala204=
NM_015636.4:c.1227C>A (EIF2B4) NP_056451.3:p.Ala409=
NM_172195.4:c.1290C>A (EIF2B4) NP_751945.2:p.Ala430=