Canonical Allele Identifier: CA346197456

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27589628C>T (hg19) ; chr2:g.27366761C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366761C>T , CM000664.2:g.27366761C>T	GRCh38
NC_000002.11:g.27589628C>T , CM000664.1:g.27589628C>T	GRCh37
NC_000002.10:g.27443132C>T	NCBI36
NG_009305.1:g.8697G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1189G>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Glu397Lys
ENST00000347454.8:c.1189G>A (EIF2B4)	ENSP00000233552.5:p.Glu397Lys
ENST00000405940.6:c.*455G>A (EIF2B4)	ENSP00000384375.2:n.*455G>A
ENST00000445933.6:c.1186G>A (EIF2B4)	ENSP00000394397.2:p.Glu396Lys
ENST00000451130.6:c.1249G>A (EIF2B4)	ENSP00000394869.2:p.Glu417Lys
ENST00000475582.5:n.3090G>A (EIF2B4)
ENST00000493344.6:c.1252G>A (EIF2B4)	ENSP00000429323.1:p.Glu418Lys
ENST00000616081.4:c.1180G>A (EIF2B4)	ENSP00000477710.1:p.Glu394Lys
ENST00000622434.4:c.*455G>A (EIF2B4)	ENSP00000479991.1:n.*455G>A
NM_001034116.1:c.1189G>A (EIF2B4)	NP_001029288.1:p.Glu397Lys
NM_015636.3:c.1186G>A (EIF2B4)	NP_056451.3:p.Glu396Lys
NM_172195.3:c.1249G>A (EIF2B4)	NP_751945.2:p.Glu417Lys
XM_005264632.1:c.1144G>A (EIF2B4)	XP_005264689.1:p.Glu382Lys
XM_006712132.1:c.1141G>A (EIF2B4)	XP_006712195.1:p.Glu381Lys
XM_011533147.1:c.571G>A (EIF2B4)	XP_011531449.1:p.Glu191Lys
XR_939868.1:n.1772-663C>T (GTF3C2-AS2)
NM_001318965.1:c.1252G>A (EIF2B4)	NP_001305894.1:p.Glu418Lys
NM_001318966.1:c.1144G>A (EIF2B4)	NP_001305895.1:p.Glu382Lys
NM_001318967.1:c.1096G>A (EIF2B4)	NP_001305896.1:p.Glu366Lys
NM_001318968.1:c.604G>A (EIF2B4)	NP_001305897.1:p.Glu202Lys
NM_001318969.1:c.571G>A (EIF2B4)	NP_001305898.1:p.Glu191Lys
XM_011533147.2:c.571G>A (EIF2B4)	XP_011531449.1:p.Glu191Lys
NM_001034116.2:c.1189G>A (EIF2B4) MANE Select	NP_001029288.1:p.Glu397Lys
NM_001318965.2:c.1252G>A (EIF2B4)	NP_001305894.1:p.Glu418Lys
NM_001318966.2:c.1144G>A (EIF2B4)	NP_001305895.1:p.Glu382Lys
NM_001318967.2:c.1096G>A (EIF2B4)	NP_001305896.1:p.Glu366Lys
NM_001318968.2:c.604G>A (EIF2B4)	NP_001305897.1:p.Glu202Lys
NM_001318969.2:c.571G>A (EIF2B4)	NP_001305898.1:p.Glu191Lys
NM_015636.4:c.1186G>A (EIF2B4)	NP_056451.3:p.Glu396Lys
NM_172195.4:c.1249G>A (EIF2B4)	NP_751945.2:p.Glu417Lys