Canonical Allele Identifier: CA346196982

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 1403455
• ClinVar RCV Id: RCV001909062
• dbSNP Id: rs1433783398
• gnomAD v2: 2-27587635-T-C
• gnomAD v4: 2-27364768-T-C
• COSMIC: COSM6091447 ; COSM6091448
• MyVariant Identifiers: chr2:g.27587635T>C (hg19) ; chr2:g.27364768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364768T>C , CM000664.2:g.27364768T>C	GRCh38
NC_000002.11:g.27587635T>C , CM000664.1:g.27587635T>C	GRCh37
NC_000002.10:g.27441139T>C	NCBI36
NG_009305.1:g.10690A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1322A>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Tyr441Cys
ENST00000347454.8:c.1322A>G (EIF2B4)	ENSP00000233552.5:p.Tyr441Cys
ENST00000405940.6:c.*588A>G (EIF2B4)	ENSP00000384375.2:n.*588A>G
ENST00000445933.6:c.1319A>G (EIF2B4)	ENSP00000394397.2:p.Tyr440Cys
ENST00000451130.6:c.1382A>G (EIF2B4)	ENSP00000394869.2:p.Tyr461Cys
ENST00000478311.1:n.315A>G (EIF2B4)
ENST00000493344.6:c.1385A>G (EIF2B4)	ENSP00000429323.1:p.Tyr462Cys
ENST00000616081.4:c.1313A>G (EIF2B4)	ENSP00000477710.1:p.Tyr438Cys
ENST00000622434.4:c.*588A>G (EIF2B4)	ENSP00000479991.1:n.*588A>G
NM_001034116.1:c.1322A>G (EIF2B4)	NP_001029288.1:p.Tyr441Cys
NM_015636.3:c.1319A>G (EIF2B4)	NP_056451.3:p.Tyr440Cys
NM_172195.3:c.1382A>G (EIF2B4)	NP_751945.2:p.Tyr461Cys
XM_005264632.1:c.1277A>G (EIF2B4)	XP_005264689.1:p.Tyr426Cys
XM_006712132.1:c.1274A>G (EIF2B4)	XP_006712195.1:p.Tyr425Cys
XM_011533147.1:c.704A>G (EIF2B4)	XP_011531449.1:p.Tyr235Cys
XR_939868.1:n.1772-2656T>C (GTF3C2-AS2)
NM_001318965.1:c.1385A>G (EIF2B4)	NP_001305894.1:p.Tyr462Cys
NM_001318966.1:c.1277A>G (EIF2B4)	NP_001305895.1:p.Tyr426Cys
NM_001318967.1:c.1229A>G (EIF2B4)	NP_001305896.1:p.Tyr410Cys
NM_001318968.1:c.737A>G (EIF2B4)	NP_001305897.1:p.Tyr246Cys
NM_001318969.1:c.704A>G (EIF2B4)	NP_001305898.1:p.Tyr235Cys
XM_011533147.2:c.704A>G (EIF2B4)	XP_011531449.1:p.Tyr235Cys
NM_001034116.2:c.1322A>G (EIF2B4) MANE Select	NP_001029288.1:p.Tyr441Cys
NM_001318965.2:c.1385A>G (EIF2B4)	NP_001305894.1:p.Tyr462Cys
NM_001318966.2:c.1277A>G (EIF2B4)	NP_001305895.1:p.Tyr426Cys
NM_001318967.2:c.1229A>G (EIF2B4)	NP_001305896.1:p.Tyr410Cys
NM_001318968.2:c.737A>G (EIF2B4)	NP_001305897.1:p.Tyr246Cys
NM_001318969.2:c.704A>G (EIF2B4)	NP_001305898.1:p.Tyr235Cys
NM_015636.4:c.1319A>G (EIF2B4)	NP_056451.3:p.Tyr440Cys
NM_172195.4:c.1382A>G (EIF2B4)	NP_751945.2:p.Tyr461Cys