Canonical Allele Identifier: CA1576620

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs755135093
• ExAC: 2:27587761 G / A
• gnomAD v2: 2-27587761-G-A
• MyVariant Identifiers: chr2:g.27587761G>A (hg19) ; chr2:g.27364894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364894G>A , CM000664.2:g.27364894G>A	GRCh38
NC_000002.11:g.27587761G>A , CM000664.1:g.27587761G>A	GRCh37
NC_000002.10:g.27441265G>A	NCBI36
NG_009305.1:g.10564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1196C>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Ser399Phe
ENST00000347454.8:c.1196C>T (EIF2B4)	ENSP00000233552.5:p.Ser399Phe
ENST00000405940.6:c.*462C>T (EIF2B4)	ENSP00000384375.2:n.*462C>T
ENST00000445933.6:c.1193C>T (EIF2B4)	ENSP00000394397.2:p.Ser398Phe
ENST00000451130.6:c.1256C>T (EIF2B4)	ENSP00000394869.2:p.Ser419Phe
ENST00000478311.1:n.189C>T (EIF2B4)
ENST00000493344.6:c.1259C>T (EIF2B4)	ENSP00000429323.1:p.Ser420Phe
ENST00000616081.4:c.1187C>T (EIF2B4)	ENSP00000477710.1:p.Ser396Phe
ENST00000622434.4:c.*462C>T (EIF2B4)	ENSP00000479991.1:n.*462C>T
NM_001034116.1:c.1196C>T (EIF2B4)	NP_001029288.1:p.Ser399Phe
NM_015636.3:c.1193C>T (EIF2B4)	NP_056451.3:p.Ser398Phe
NM_172195.3:c.1256C>T (EIF2B4)	NP_751945.2:p.Ser419Phe
XM_005264632.1:c.1151C>T (EIF2B4)	XP_005264689.1:p.Ser384Phe
XM_006712132.1:c.1148C>T (EIF2B4)	XP_006712195.1:p.Ser383Phe
XM_011533147.1:c.578C>T (EIF2B4)	XP_011531449.1:p.Ser193Phe
XR_939868.1:n.1772-2530G>A (GTF3C2-AS2)
NM_001318965.1:c.1259C>T (EIF2B4)	NP_001305894.1:p.Ser420Phe
NM_001318966.1:c.1151C>T (EIF2B4)	NP_001305895.1:p.Ser384Phe
NM_001318967.1:c.1103C>T (EIF2B4)	NP_001305896.1:p.Ser368Phe
NM_001318968.1:c.611C>T (EIF2B4)	NP_001305897.1:p.Ser204Phe
NM_001318969.1:c.578C>T (EIF2B4)	NP_001305898.1:p.Ser193Phe
XM_011533147.2:c.578C>T (EIF2B4)	XP_011531449.1:p.Ser193Phe
NM_001034116.2:c.1196C>T (EIF2B4) MANE Select	NP_001029288.1:p.Ser399Phe
NM_001318965.2:c.1259C>T (EIF2B4)	NP_001305894.1:p.Ser420Phe
NM_001318966.2:c.1151C>T (EIF2B4)	NP_001305895.1:p.Ser384Phe
NM_001318967.2:c.1103C>T (EIF2B4)	NP_001305896.1:p.Ser368Phe
NM_001318968.2:c.611C>T (EIF2B4)	NP_001305897.1:p.Ser204Phe
NM_001318969.2:c.578C>T (EIF2B4)	NP_001305898.1:p.Ser193Phe
NM_015636.4:c.1193C>T (EIF2B4)	NP_056451.3:p.Ser398Phe
NM_172195.4:c.1256C>T (EIF2B4)	NP_751945.2:p.Ser419Phe