Canonical Allele Identifier: CA346196565

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587346T>A (hg19) ; chr2:g.27364479T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364479T>A , CM000664.2:g.27364479T>A	GRCh38
NC_000002.11:g.27587346T>A , CM000664.1:g.27587346T>A	GRCh37
NC_000002.10:g.27440850T>A	NCBI36
NG_009305.1:g.10979A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1493A>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Asp498Val
ENST00000347454.8:c.1493A>T (EIF2B4)	ENSP00000233552.5:p.Asp498Val
ENST00000405940.6:c.*759A>T (EIF2B4)	ENSP00000384375.2:n.*759A>T
ENST00000445933.6:c.1490A>T (EIF2B4)	ENSP00000394397.2:p.Asp497Val
ENST00000451130.6:c.1553A>T (EIF2B4)	ENSP00000394869.2:p.Asp518Val
ENST00000478311.1:n.486A>T (EIF2B4)
ENST00000493344.6:c.1556A>T (EIF2B4)	ENSP00000429323.1:p.Asp519Val
ENST00000616081.4:c.1484A>T (EIF2B4)	ENSP00000477710.1:p.Asp495Val
ENST00000622434.4:c.*759A>T (EIF2B4)	ENSP00000479991.1:n.*759A>T
NM_001034116.1:c.1493A>T (EIF2B4)	NP_001029288.1:p.Asp498Val
NM_015636.3:c.1490A>T (EIF2B4)	NP_056451.3:p.Asp497Val
NM_172195.3:c.1553A>T (EIF2B4)	NP_751945.2:p.Asp518Val
XM_005264632.1:c.1448A>T (EIF2B4)	XP_005264689.1:p.Asp483Val
XM_006712132.1:c.1445A>T (EIF2B4)	XP_006712195.1:p.Asp482Val
XM_011533147.1:c.875A>T (EIF2B4)	XP_011531449.1:p.Asp292Val
XR_939868.1:n.1772-2945T>A (GTF3C2-AS2)
NM_001318965.1:c.1556A>T (EIF2B4)	NP_001305894.1:p.Asp519Val
NM_001318966.1:c.1448A>T (EIF2B4)	NP_001305895.1:p.Asp483Val
NM_001318967.1:c.1400A>T (EIF2B4)	NP_001305896.1:p.Asp467Val
NM_001318968.1:c.908A>T (EIF2B4)	NP_001305897.1:p.Asp303Val
NM_001318969.1:c.875A>T (EIF2B4)	NP_001305898.1:p.Asp292Val
XM_011533147.2:c.875A>T (EIF2B4)	XP_011531449.1:p.Asp292Val
NM_001034116.2:c.1493A>T (EIF2B4) MANE Select	NP_001029288.1:p.Asp498Val
NM_001318965.2:c.1556A>T (EIF2B4)	NP_001305894.1:p.Asp519Val
NM_001318966.2:c.1448A>T (EIF2B4)	NP_001305895.1:p.Asp483Val
NM_001318967.2:c.1400A>T (EIF2B4)	NP_001305896.1:p.Asp467Val
NM_001318968.2:c.908A>T (EIF2B4)	NP_001305897.1:p.Asp303Val
NM_001318969.2:c.875A>T (EIF2B4)	NP_001305898.1:p.Asp292Val
NM_015636.4:c.1490A>T (EIF2B4)	NP_056451.3:p.Asp497Val
NM_172195.4:c.1553A>T (EIF2B4)	NP_751945.2:p.Asp518Val