Canonical Allele Identifier: CA346197449

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27366759-C-A
• MyVariant Identifiers: chr2:g.27589626C>A (hg19) ; chr2:g.27366759C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366759C>A , CM000664.2:g.27366759C>A	GRCh38
NC_000002.11:g.27589626C>A , CM000664.1:g.27589626C>A	GRCh37
NC_000002.10:g.27443130C>A	NCBI36
NG_009305.1:g.8699G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1191G>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Glu397Asp
ENST00000347454.8:c.1191G>T (EIF2B4)	ENSP00000233552.5:p.Glu397Asp
ENST00000405940.6:c.*457G>T (EIF2B4)	ENSP00000384375.2:n.*457G>T
ENST00000445933.6:c.1188G>T (EIF2B4)	ENSP00000394397.2:p.Glu396Asp
ENST00000451130.6:c.1251G>T (EIF2B4)	ENSP00000394869.2:p.Glu417Asp
ENST00000475582.5:n.3092G>T (EIF2B4)
ENST00000493344.6:c.1254G>T (EIF2B4)	ENSP00000429323.1:p.Glu418Asp
ENST00000616081.4:c.1182G>T (EIF2B4)	ENSP00000477710.1:p.Glu394Asp
ENST00000622434.4:c.*457G>T (EIF2B4)	ENSP00000479991.1:n.*457G>T
NM_001034116.1:c.1191G>T (EIF2B4)	NP_001029288.1:p.Glu397Asp
NM_015636.3:c.1188G>T (EIF2B4)	NP_056451.3:p.Glu396Asp
NM_172195.3:c.1251G>T (EIF2B4)	NP_751945.2:p.Glu417Asp
XM_005264632.1:c.1146G>T (EIF2B4)	XP_005264689.1:p.Glu382Asp
XM_006712132.1:c.1143G>T (EIF2B4)	XP_006712195.1:p.Glu381Asp
XM_011533147.1:c.573G>T (EIF2B4)	XP_011531449.1:p.Glu191Asp
XR_939868.1:n.1772-665C>A (GTF3C2-AS2)
NM_001318965.1:c.1254G>T (EIF2B4)	NP_001305894.1:p.Glu418Asp
NM_001318966.1:c.1146G>T (EIF2B4)	NP_001305895.1:p.Glu382Asp
NM_001318967.1:c.1098G>T (EIF2B4)	NP_001305896.1:p.Glu366Asp
NM_001318968.1:c.606G>T (EIF2B4)	NP_001305897.1:p.Glu202Asp
NM_001318969.1:c.573G>T (EIF2B4)	NP_001305898.1:p.Glu191Asp
XM_011533147.2:c.573G>T (EIF2B4)	XP_011531449.1:p.Glu191Asp
NM_001034116.2:c.1191G>T (EIF2B4) MANE Select	NP_001029288.1:p.Glu397Asp
NM_001318965.2:c.1254G>T (EIF2B4)	NP_001305894.1:p.Glu418Asp
NM_001318966.2:c.1146G>T (EIF2B4)	NP_001305895.1:p.Glu382Asp
NM_001318967.2:c.1098G>T (EIF2B4)	NP_001305896.1:p.Glu366Asp
NM_001318968.2:c.606G>T (EIF2B4)	NP_001305897.1:p.Glu202Asp
NM_001318969.2:c.573G>T (EIF2B4)	NP_001305898.1:p.Glu191Asp
NM_015636.4:c.1188G>T (EIF2B4)	NP_056451.3:p.Glu396Asp
NM_172195.4:c.1251G>T (EIF2B4)	NP_751945.2:p.Glu417Asp