Canonical Allele Identifier: CA425410279
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27587685G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27364818G>A , CM000664.2:g.27364818G>A GRCh38
NC_000002.11:g.27587685G>A , CM000664.1:g.27587685G>A GRCh37
NC_000002.10:g.27441189G>A NCBI36
NG_009305.1:g.10640C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.1272C>T (EIF2B4) MANE Select ENSP00000233552.6:p.Ala424=
ENST00000347454.8:c.1272C>T (EIF2B4) ENSP00000233552.5:p.Ala424=
ENST00000405940.6:c.*538C>T (EIF2B4) ENSP00000384375.2:n.*538C>T
ENST00000445933.6:c.1269C>T (EIF2B4) ENSP00000394397.2:p.Ala423=
ENST00000451130.6:c.1332C>T (EIF2B4) ENSP00000394869.2:p.Ala444=
ENST00000478311.1:n.265C>T (EIF2B4)
ENST00000493344.6:c.1335C>T (EIF2B4) ENSP00000429323.1:p.Ala445=
ENST00000616081.4:c.1263C>T (EIF2B4) ENSP00000477710.1:p.Ala421=
ENST00000622434.4:c.*538C>T (EIF2B4) ENSP00000479991.1:n.*538C>T
NM_001034116.1:c.1272C>T (EIF2B4) NP_001029288.1:p.Ala424=
NM_015636.3:c.1269C>T (EIF2B4) NP_056451.3:p.Ala423=
NM_172195.3:c.1332C>T (EIF2B4) NP_751945.2:p.Ala444=
XM_005264632.1:c.1227C>T (EIF2B4) XP_005264689.1:p.Ala409=
XM_006712132.1:c.1224C>T (EIF2B4) XP_006712195.1:p.Ala408=
XM_011533147.1:c.654C>T (EIF2B4) XP_011531449.1:p.Ala218=
XR_939868.1:n.1772-2606G>A (GTF3C2-AS2)
NM_001318965.1:c.1335C>T (EIF2B4) NP_001305894.1:p.Ala445=
NM_001318966.1:c.1227C>T (EIF2B4) NP_001305895.1:p.Ala409=
NM_001318967.1:c.1179C>T (EIF2B4) NP_001305896.1:p.Ala393=
NM_001318968.1:c.687C>T (EIF2B4) NP_001305897.1:p.Ala229=
NM_001318969.1:c.654C>T (EIF2B4) NP_001305898.1:p.Ala218=
XM_011533147.2:c.654C>T (EIF2B4) XP_011531449.1:p.Ala218=
NM_001034116.2:c.1272C>T (EIF2B4) MANE Select NP_001029288.1:p.Ala424=
NM_001318965.2:c.1335C>T (EIF2B4) NP_001305894.1:p.Ala445=
NM_001318966.2:c.1227C>T (EIF2B4) NP_001305895.1:p.Ala409=
NM_001318967.2:c.1179C>T (EIF2B4) NP_001305896.1:p.Ala393=
NM_001318968.2:c.687C>T (EIF2B4) NP_001305897.1:p.Ala229=
NM_001318969.2:c.654C>T (EIF2B4) NP_001305898.1:p.Ala218=
NM_015636.4:c.1269C>T (EIF2B4) NP_056451.3:p.Ala423=
NM_172195.4:c.1332C>T (EIF2B4) NP_751945.2:p.Ala444=