Canonical Allele Identifier: CA346197008

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587642C>G (hg19) ; chr2:g.27364775C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364775C>G , CM000664.2:g.27364775C>G	GRCh38
NC_000002.11:g.27587642C>G , CM000664.1:g.27587642C>G	GRCh37
NC_000002.10:g.27441146C>G	NCBI36
NG_009305.1:g.10683G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1315G>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Glu439Gln
ENST00000347454.8:c.1315G>C (EIF2B4)	ENSP00000233552.5:p.Glu439Gln
ENST00000405940.6:c.*581G>C (EIF2B4)	ENSP00000384375.2:n.*581G>C
ENST00000445933.6:c.1312G>C (EIF2B4)	ENSP00000394397.2:p.Glu438Gln
ENST00000451130.6:c.1375G>C (EIF2B4)	ENSP00000394869.2:p.Glu459Gln
ENST00000478311.1:n.308G>C (EIF2B4)
ENST00000493344.6:c.1378G>C (EIF2B4)	ENSP00000429323.1:p.Glu460Gln
ENST00000616081.4:c.1306G>C (EIF2B4)	ENSP00000477710.1:p.Glu436Gln
ENST00000622434.4:c.*581G>C (EIF2B4)	ENSP00000479991.1:n.*581G>C
NM_001034116.1:c.1315G>C (EIF2B4)	NP_001029288.1:p.Glu439Gln
NM_015636.3:c.1312G>C (EIF2B4)	NP_056451.3:p.Glu438Gln
NM_172195.3:c.1375G>C (EIF2B4)	NP_751945.2:p.Glu459Gln
XM_005264632.1:c.1270G>C (EIF2B4)	XP_005264689.1:p.Glu424Gln
XM_006712132.1:c.1267G>C (EIF2B4)	XP_006712195.1:p.Glu423Gln
XM_011533147.1:c.697G>C (EIF2B4)	XP_011531449.1:p.Glu233Gln
XR_939868.1:n.1772-2649C>G (GTF3C2-AS2)
NM_001318965.1:c.1378G>C (EIF2B4)	NP_001305894.1:p.Glu460Gln
NM_001318966.1:c.1270G>C (EIF2B4)	NP_001305895.1:p.Glu424Gln
NM_001318967.1:c.1222G>C (EIF2B4)	NP_001305896.1:p.Glu408Gln
NM_001318968.1:c.730G>C (EIF2B4)	NP_001305897.1:p.Glu244Gln
NM_001318969.1:c.697G>C (EIF2B4)	NP_001305898.1:p.Glu233Gln
XM_011533147.2:c.697G>C (EIF2B4)	XP_011531449.1:p.Glu233Gln
NM_001034116.2:c.1315G>C (EIF2B4) MANE Select	NP_001029288.1:p.Glu439Gln
NM_001318965.2:c.1378G>C (EIF2B4)	NP_001305894.1:p.Glu460Gln
NM_001318966.2:c.1270G>C (EIF2B4)	NP_001305895.1:p.Glu424Gln
NM_001318967.2:c.1222G>C (EIF2B4)	NP_001305896.1:p.Glu408Gln
NM_001318968.2:c.730G>C (EIF2B4)	NP_001305897.1:p.Glu244Gln
NM_001318969.2:c.697G>C (EIF2B4)	NP_001305898.1:p.Glu233Gln
NM_015636.4:c.1312G>C (EIF2B4)	NP_056451.3:p.Glu438Gln
NM_172195.4:c.1375G>C (EIF2B4)	NP_751945.2:p.Glu459Gln