Canonical Allele Identifier: CA346197104

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587671G>T (hg19) ; chr2:g.27364804G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364804G>T , CM000664.2:g.27364804G>T	GRCh38
NC_000002.11:g.27587671G>T , CM000664.1:g.27587671G>T	GRCh37
NC_000002.10:g.27441175G>T	NCBI36
NG_009305.1:g.10654C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1286C>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Ala429Asp
ENST00000347454.8:c.1286C>A (EIF2B4)	ENSP00000233552.5:p.Ala429Asp
ENST00000405940.6:c.*552C>A (EIF2B4)	ENSP00000384375.2:n.*552C>A
ENST00000445933.6:c.1283C>A (EIF2B4)	ENSP00000394397.2:p.Ala428Asp
ENST00000451130.6:c.1346C>A (EIF2B4)	ENSP00000394869.2:p.Ala449Asp
ENST00000478311.1:n.279C>A (EIF2B4)
ENST00000493344.6:c.1349C>A (EIF2B4)	ENSP00000429323.1:p.Ala450Asp
ENST00000616081.4:c.1277C>A (EIF2B4)	ENSP00000477710.1:p.Ala426Asp
ENST00000622434.4:c.*552C>A (EIF2B4)	ENSP00000479991.1:n.*552C>A
NM_001034116.1:c.1286C>A (EIF2B4)	NP_001029288.1:p.Ala429Asp
NM_015636.3:c.1283C>A (EIF2B4)	NP_056451.3:p.Ala428Asp
NM_172195.3:c.1346C>A (EIF2B4)	NP_751945.2:p.Ala449Asp
XM_005264632.1:c.1241C>A (EIF2B4)	XP_005264689.1:p.Ala414Asp
XM_006712132.1:c.1238C>A (EIF2B4)	XP_006712195.1:p.Ala413Asp
XM_011533147.1:c.668C>A (EIF2B4)	XP_011531449.1:p.Ala223Asp
XR_939868.1:n.1772-2620G>T (GTF3C2-AS2)
NM_001318965.1:c.1349C>A (EIF2B4)	NP_001305894.1:p.Ala450Asp
NM_001318966.1:c.1241C>A (EIF2B4)	NP_001305895.1:p.Ala414Asp
NM_001318967.1:c.1193C>A (EIF2B4)	NP_001305896.1:p.Ala398Asp
NM_001318968.1:c.701C>A (EIF2B4)	NP_001305897.1:p.Ala234Asp
NM_001318969.1:c.668C>A (EIF2B4)	NP_001305898.1:p.Ala223Asp
XM_011533147.2:c.668C>A (EIF2B4)	XP_011531449.1:p.Ala223Asp
NM_001034116.2:c.1286C>A (EIF2B4) MANE Select	NP_001029288.1:p.Ala429Asp
NM_001318965.2:c.1349C>A (EIF2B4)	NP_001305894.1:p.Ala450Asp
NM_001318966.2:c.1241C>A (EIF2B4)	NP_001305895.1:p.Ala414Asp
NM_001318967.2:c.1193C>A (EIF2B4)	NP_001305896.1:p.Ala398Asp
NM_001318968.2:c.701C>A (EIF2B4)	NP_001305897.1:p.Ala234Asp
NM_001318969.2:c.668C>A (EIF2B4)	NP_001305898.1:p.Ala223Asp
NM_015636.4:c.1283C>A (EIF2B4)	NP_056451.3:p.Ala428Asp
NM_172195.4:c.1346C>A (EIF2B4)	NP_751945.2:p.Ala449Asp