Canonical Allele Identifier: CA346196947

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587626C>T (hg19) ; chr2:g.27364759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364759C>T , CM000664.2:g.27364759C>T	GRCh38
NC_000002.11:g.27587626C>T , CM000664.1:g.27587626C>T	GRCh37
NC_000002.10:g.27441130C>T	NCBI36
NG_009305.1:g.10699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1331G>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Cys444Tyr
ENST00000347454.8:c.1331G>A (EIF2B4)	ENSP00000233552.5:p.Cys444Tyr
ENST00000405940.6:c.*597G>A (EIF2B4)	ENSP00000384375.2:n.*597G>A
ENST00000445933.6:c.1328G>A (EIF2B4)	ENSP00000394397.2:p.Cys443Tyr
ENST00000451130.6:c.1391G>A (EIF2B4)	ENSP00000394869.2:p.Cys464Tyr
ENST00000478311.1:n.324G>A (EIF2B4)
ENST00000493344.6:c.1394G>A (EIF2B4)	ENSP00000429323.1:p.Cys465Tyr
ENST00000616081.4:c.1322G>A (EIF2B4)	ENSP00000477710.1:p.Cys441Tyr
ENST00000622434.4:c.*597G>A (EIF2B4)	ENSP00000479991.1:n.*597G>A
NM_001034116.1:c.1331G>A (EIF2B4)	NP_001029288.1:p.Cys444Tyr
NM_015636.3:c.1328G>A (EIF2B4)	NP_056451.3:p.Cys443Tyr
NM_172195.3:c.1391G>A (EIF2B4)	NP_751945.2:p.Cys464Tyr
XM_005264632.1:c.1286G>A (EIF2B4)	XP_005264689.1:p.Cys429Tyr
XM_006712132.1:c.1283G>A (EIF2B4)	XP_006712195.1:p.Cys428Tyr
XM_011533147.1:c.713G>A (EIF2B4)	XP_011531449.1:p.Cys238Tyr
XR_939868.1:n.1772-2665C>T (GTF3C2-AS2)
NM_001318965.1:c.1394G>A (EIF2B4)	NP_001305894.1:p.Cys465Tyr
NM_001318966.1:c.1286G>A (EIF2B4)	NP_001305895.1:p.Cys429Tyr
NM_001318967.1:c.1238G>A (EIF2B4)	NP_001305896.1:p.Cys413Tyr
NM_001318968.1:c.746G>A (EIF2B4)	NP_001305897.1:p.Cys249Tyr
NM_001318969.1:c.713G>A (EIF2B4)	NP_001305898.1:p.Cys238Tyr
XM_011533147.2:c.713G>A (EIF2B4)	XP_011531449.1:p.Cys238Tyr
NM_001034116.2:c.1331G>A (EIF2B4) MANE Select	NP_001029288.1:p.Cys444Tyr
NM_001318965.2:c.1394G>A (EIF2B4)	NP_001305894.1:p.Cys465Tyr
NM_001318966.2:c.1286G>A (EIF2B4)	NP_001305895.1:p.Cys429Tyr
NM_001318967.2:c.1238G>A (EIF2B4)	NP_001305896.1:p.Cys413Tyr
NM_001318968.2:c.746G>A (EIF2B4)	NP_001305897.1:p.Cys249Tyr
NM_001318969.2:c.713G>A (EIF2B4)	NP_001305898.1:p.Cys238Tyr
NM_015636.4:c.1328G>A (EIF2B4)	NP_056451.3:p.Cys443Tyr
NM_172195.4:c.1391G>A (EIF2B4)	NP_751945.2:p.Cys464Tyr