Canonical Allele Identifier: CA346196791

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27364589-A-T
• MyVariant Identifiers: chr2:g.27587456A>T (hg19) ; chr2:g.27364589A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364589A>T , CM000664.2:g.27364589A>T	GRCh38
NC_000002.11:g.27587456A>T , CM000664.1:g.27587456A>T	GRCh37
NC_000002.10:g.27440960A>T	NCBI36
NG_009305.1:g.10869T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1383T>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Asp461Glu
ENST00000347454.8:c.1383T>A (EIF2B4)	ENSP00000233552.5:p.Asp461Glu
ENST00000405940.6:c.*649T>A (EIF2B4)	ENSP00000384375.2:n.*649T>A
ENST00000445933.6:c.1380T>A (EIF2B4)	ENSP00000394397.2:p.Asp460Glu
ENST00000451130.6:c.1443T>A (EIF2B4)	ENSP00000394869.2:p.Asp481Glu
ENST00000478311.1:n.376T>A (EIF2B4)
ENST00000493344.6:c.1446T>A (EIF2B4)	ENSP00000429323.1:p.Asp482Glu
ENST00000616081.4:c.1374T>A (EIF2B4)	ENSP00000477710.1:p.Asp458Glu
ENST00000622434.4:c.*649T>A (EIF2B4)	ENSP00000479991.1:n.*649T>A
NM_001034116.1:c.1383T>A (EIF2B4)	NP_001029288.1:p.Asp461Glu
NM_015636.3:c.1380T>A (EIF2B4)	NP_056451.3:p.Asp460Glu
NM_172195.3:c.1443T>A (EIF2B4)	NP_751945.2:p.Asp481Glu
XM_005264632.1:c.1338T>A (EIF2B4)	XP_005264689.1:p.Asp446Glu
XM_006712132.1:c.1335T>A (EIF2B4)	XP_006712195.1:p.Asp445Glu
XM_011533147.1:c.765T>A (EIF2B4)	XP_011531449.1:p.Asp255Glu
XR_939868.1:n.1772-2835A>T (GTF3C2-AS2)
NM_001318965.1:c.1446T>A (EIF2B4)	NP_001305894.1:p.Asp482Glu
NM_001318966.1:c.1338T>A (EIF2B4)	NP_001305895.1:p.Asp446Glu
NM_001318967.1:c.1290T>A (EIF2B4)	NP_001305896.1:p.Asp430Glu
NM_001318968.1:c.798T>A (EIF2B4)	NP_001305897.1:p.Asp266Glu
NM_001318969.1:c.765T>A (EIF2B4)	NP_001305898.1:p.Asp255Glu
XM_011533147.2:c.765T>A (EIF2B4)	XP_011531449.1:p.Asp255Glu
NM_001034116.2:c.1383T>A (EIF2B4) MANE Select	NP_001029288.1:p.Asp461Glu
NM_001318965.2:c.1446T>A (EIF2B4)	NP_001305894.1:p.Asp482Glu
NM_001318966.2:c.1338T>A (EIF2B4)	NP_001305895.1:p.Asp446Glu
NM_001318967.2:c.1290T>A (EIF2B4)	NP_001305896.1:p.Asp430Glu
NM_001318968.2:c.798T>A (EIF2B4)	NP_001305897.1:p.Asp266Glu
NM_001318969.2:c.765T>A (EIF2B4)	NP_001305898.1:p.Asp255Glu
NM_015636.4:c.1380T>A (EIF2B4)	NP_056451.3:p.Asp460Glu
NM_172195.4:c.1443T>A (EIF2B4)	NP_751945.2:p.Asp481Glu