Canonical Allele Identifier: CA346197324

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27364877-C-T
• MyVariant Identifiers: chr2:g.27587744C>T (hg19) ; chr2:g.27364877C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364877C>T , CM000664.2:g.27364877C>T	GRCh38
NC_000002.11:g.27587744C>T , CM000664.1:g.27587744C>T	GRCh37
NC_000002.10:g.27441248C>T	NCBI36
NG_009305.1:g.10581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1213G>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Ala405Thr
ENST00000347454.8:c.1213G>A (EIF2B4)	ENSP00000233552.5:p.Ala405Thr
ENST00000405940.6:c.*479G>A (EIF2B4)	ENSP00000384375.2:n.*479G>A
ENST00000445933.6:c.1210G>A (EIF2B4)	ENSP00000394397.2:p.Ala404Thr
ENST00000451130.6:c.1273G>A (EIF2B4)	ENSP00000394869.2:p.Ala425Thr
ENST00000478311.1:n.206G>A (EIF2B4)
ENST00000493344.6:c.1276G>A (EIF2B4)	ENSP00000429323.1:p.Ala426Thr
ENST00000616081.4:c.1204G>A (EIF2B4)	ENSP00000477710.1:p.Ala402Thr
ENST00000622434.4:c.*479G>A (EIF2B4)	ENSP00000479991.1:n.*479G>A
NM_001034116.1:c.1213G>A (EIF2B4)	NP_001029288.1:p.Ala405Thr
NM_015636.3:c.1210G>A (EIF2B4)	NP_056451.3:p.Ala404Thr
NM_172195.3:c.1273G>A (EIF2B4)	NP_751945.2:p.Ala425Thr
XM_005264632.1:c.1168G>A (EIF2B4)	XP_005264689.1:p.Ala390Thr
XM_006712132.1:c.1165G>A (EIF2B4)	XP_006712195.1:p.Ala389Thr
XM_011533147.1:c.595G>A (EIF2B4)	XP_011531449.1:p.Ala199Thr
XR_939868.1:n.1772-2547C>T (GTF3C2-AS2)
NM_001318965.1:c.1276G>A (EIF2B4)	NP_001305894.1:p.Ala426Thr
NM_001318966.1:c.1168G>A (EIF2B4)	NP_001305895.1:p.Ala390Thr
NM_001318967.1:c.1120G>A (EIF2B4)	NP_001305896.1:p.Ala374Thr
NM_001318968.1:c.628G>A (EIF2B4)	NP_001305897.1:p.Ala210Thr
NM_001318969.1:c.595G>A (EIF2B4)	NP_001305898.1:p.Ala199Thr
XM_011533147.2:c.595G>A (EIF2B4)	XP_011531449.1:p.Ala199Thr
NM_001034116.2:c.1213G>A (EIF2B4) MANE Select	NP_001029288.1:p.Ala405Thr
NM_001318965.2:c.1276G>A (EIF2B4)	NP_001305894.1:p.Ala426Thr
NM_001318966.2:c.1168G>A (EIF2B4)	NP_001305895.1:p.Ala390Thr
NM_001318967.2:c.1120G>A (EIF2B4)	NP_001305896.1:p.Ala374Thr
NM_001318968.2:c.628G>A (EIF2B4)	NP_001305897.1:p.Ala210Thr
NM_001318969.2:c.595G>A (EIF2B4)	NP_001305898.1:p.Ala199Thr
NM_015636.4:c.1210G>A (EIF2B4)	NP_056451.3:p.Ala404Thr
NM_172195.4:c.1273G>A (EIF2B4)	NP_751945.2:p.Ala425Thr