Canonical Allele Identifier: CA346196955

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1681718493
• COSMIC: COSM1019653 ; COSM1592087
• MyVariant Identifiers: chr2:g.27587628G>T (hg19) ; chr2:g.27364761G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364761G>T , CM000664.2:g.27364761G>T	GRCh38
NC_000002.11:g.27587628G>T , CM000664.1:g.27587628G>T	GRCh37
NC_000002.10:g.27441132G>T	NCBI36
NG_009305.1:g.10697C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1329C>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Phe443Leu
ENST00000347454.8:c.1329C>A (EIF2B4)	ENSP00000233552.5:p.Phe443Leu
ENST00000405940.6:c.*595C>A (EIF2B4)	ENSP00000384375.2:n.*595C>A
ENST00000445933.6:c.1326C>A (EIF2B4)	ENSP00000394397.2:p.Phe442Leu
ENST00000451130.6:c.1389C>A (EIF2B4)	ENSP00000394869.2:p.Phe463Leu
ENST00000478311.1:n.322C>A (EIF2B4)
ENST00000493344.6:c.1392C>A (EIF2B4)	ENSP00000429323.1:p.Phe464Leu
ENST00000616081.4:c.1320C>A (EIF2B4)	ENSP00000477710.1:p.Phe440Leu
ENST00000622434.4:c.*595C>A (EIF2B4)	ENSP00000479991.1:n.*595C>A
NM_001034116.1:c.1329C>A (EIF2B4)	NP_001029288.1:p.Phe443Leu
NM_015636.3:c.1326C>A (EIF2B4)	NP_056451.3:p.Phe442Leu
NM_172195.3:c.1389C>A (EIF2B4)	NP_751945.2:p.Phe463Leu
XM_005264632.1:c.1284C>A (EIF2B4)	XP_005264689.1:p.Phe428Leu
XM_006712132.1:c.1281C>A (EIF2B4)	XP_006712195.1:p.Phe427Leu
XM_011533147.1:c.711C>A (EIF2B4)	XP_011531449.1:p.Phe237Leu
XR_939868.1:n.1772-2663G>T (GTF3C2-AS2)
NM_001318965.1:c.1392C>A (EIF2B4)	NP_001305894.1:p.Phe464Leu
NM_001318966.1:c.1284C>A (EIF2B4)	NP_001305895.1:p.Phe428Leu
NM_001318967.1:c.1236C>A (EIF2B4)	NP_001305896.1:p.Phe412Leu
NM_001318968.1:c.744C>A (EIF2B4)	NP_001305897.1:p.Phe248Leu
NM_001318969.1:c.711C>A (EIF2B4)	NP_001305898.1:p.Phe237Leu
XM_011533147.2:c.711C>A (EIF2B4)	XP_011531449.1:p.Phe237Leu
NM_001034116.2:c.1329C>A (EIF2B4) MANE Select	NP_001029288.1:p.Phe443Leu
NM_001318965.2:c.1392C>A (EIF2B4)	NP_001305894.1:p.Phe464Leu
NM_001318966.2:c.1284C>A (EIF2B4)	NP_001305895.1:p.Phe428Leu
NM_001318967.2:c.1236C>A (EIF2B4)	NP_001305896.1:p.Phe412Leu
NM_001318968.2:c.744C>A (EIF2B4)	NP_001305897.1:p.Phe248Leu
NM_001318969.2:c.711C>A (EIF2B4)	NP_001305898.1:p.Phe237Leu
NM_015636.4:c.1326C>A (EIF2B4)	NP_056451.3:p.Phe442Leu
NM_172195.4:c.1389C>A (EIF2B4)	NP_751945.2:p.Phe463Leu