Canonical Allele Identifier: CA346197191

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587701C>T (hg19) ; chr2:g.27364834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364834C>T , CM000664.2:g.27364834C>T	GRCh38
NC_000002.11:g.27587701C>T , CM000664.1:g.27587701C>T	GRCh37
NC_000002.10:g.27441205C>T	NCBI36
NG_009305.1:g.10624G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1256G>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Gly419Glu
ENST00000347454.8:c.1256G>A (EIF2B4)	ENSP00000233552.5:p.Gly419Glu
ENST00000405940.6:c.*522G>A (EIF2B4)	ENSP00000384375.2:n.*522G>A
ENST00000445933.6:c.1253G>A (EIF2B4)	ENSP00000394397.2:p.Gly418Glu
ENST00000451130.6:c.1316G>A (EIF2B4)	ENSP00000394869.2:p.Gly439Glu
ENST00000478311.1:n.249G>A (EIF2B4)
ENST00000493344.6:c.1319G>A (EIF2B4)	ENSP00000429323.1:p.Gly440Glu
ENST00000616081.4:c.1247G>A (EIF2B4)	ENSP00000477710.1:p.Gly416Glu
ENST00000622434.4:c.*522G>A (EIF2B4)	ENSP00000479991.1:n.*522G>A
NM_001034116.1:c.1256G>A (EIF2B4)	NP_001029288.1:p.Gly419Glu
NM_015636.3:c.1253G>A (EIF2B4)	NP_056451.3:p.Gly418Glu
NM_172195.3:c.1316G>A (EIF2B4)	NP_751945.2:p.Gly439Glu
XM_005264632.1:c.1211G>A (EIF2B4)	XP_005264689.1:p.Gly404Glu
XM_006712132.1:c.1208G>A (EIF2B4)	XP_006712195.1:p.Gly403Glu
XM_011533147.1:c.638G>A (EIF2B4)	XP_011531449.1:p.Gly213Glu
XR_939868.1:n.1772-2590C>T (GTF3C2-AS2)
NM_001318965.1:c.1319G>A (EIF2B4)	NP_001305894.1:p.Gly440Glu
NM_001318966.1:c.1211G>A (EIF2B4)	NP_001305895.1:p.Gly404Glu
NM_001318967.1:c.1163G>A (EIF2B4)	NP_001305896.1:p.Gly388Glu
NM_001318968.1:c.671G>A (EIF2B4)	NP_001305897.1:p.Gly224Glu
NM_001318969.1:c.638G>A (EIF2B4)	NP_001305898.1:p.Gly213Glu
XM_011533147.2:c.638G>A (EIF2B4)	XP_011531449.1:p.Gly213Glu
NM_001034116.2:c.1256G>A (EIF2B4) MANE Select	NP_001029288.1:p.Gly419Glu
NM_001318965.2:c.1319G>A (EIF2B4)	NP_001305894.1:p.Gly440Glu
NM_001318966.2:c.1211G>A (EIF2B4)	NP_001305895.1:p.Gly404Glu
NM_001318967.2:c.1163G>A (EIF2B4)	NP_001305896.1:p.Gly388Glu
NM_001318968.2:c.671G>A (EIF2B4)	NP_001305897.1:p.Gly224Glu
NM_001318969.2:c.638G>A (EIF2B4)	NP_001305898.1:p.Gly213Glu
NM_015636.4:c.1253G>A (EIF2B4)	NP_056451.3:p.Gly418Glu
NM_172195.4:c.1316G>A (EIF2B4)	NP_751945.2:p.Gly439Glu