Canonical Allele Identifier: CA346197083

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587665T>G (hg19) ; chr2:g.27364798T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364798T>G , CM000664.2:g.27364798T>G	GRCh38
NC_000002.11:g.27587665T>G , CM000664.1:g.27587665T>G	GRCh37
NC_000002.10:g.27441169T>G	NCBI36
NG_009305.1:g.10660A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1292A>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Asn431Thr
ENST00000347454.8:c.1292A>C (EIF2B4)	ENSP00000233552.5:p.Asn431Thr
ENST00000405940.6:c.*558A>C (EIF2B4)	ENSP00000384375.2:n.*558A>C
ENST00000445933.6:c.1289A>C (EIF2B4)	ENSP00000394397.2:p.Asn430Thr
ENST00000451130.6:c.1352A>C (EIF2B4)	ENSP00000394869.2:p.Asn451Thr
ENST00000478311.1:n.285A>C (EIF2B4)
ENST00000493344.6:c.1355A>C (EIF2B4)	ENSP00000429323.1:p.Asn452Thr
ENST00000616081.4:c.1283A>C (EIF2B4)	ENSP00000477710.1:p.Asn428Thr
ENST00000622434.4:c.*558A>C (EIF2B4)	ENSP00000479991.1:n.*558A>C
NM_001034116.1:c.1292A>C (EIF2B4)	NP_001029288.1:p.Asn431Thr
NM_015636.3:c.1289A>C (EIF2B4)	NP_056451.3:p.Asn430Thr
NM_172195.3:c.1352A>C (EIF2B4)	NP_751945.2:p.Asn451Thr
XM_005264632.1:c.1247A>C (EIF2B4)	XP_005264689.1:p.Asn416Thr
XM_006712132.1:c.1244A>C (EIF2B4)	XP_006712195.1:p.Asn415Thr
XM_011533147.1:c.674A>C (EIF2B4)	XP_011531449.1:p.Asn225Thr
XR_939868.1:n.1772-2626T>G (GTF3C2-AS2)
NM_001318965.1:c.1355A>C (EIF2B4)	NP_001305894.1:p.Asn452Thr
NM_001318966.1:c.1247A>C (EIF2B4)	NP_001305895.1:p.Asn416Thr
NM_001318967.1:c.1199A>C (EIF2B4)	NP_001305896.1:p.Asn400Thr
NM_001318968.1:c.707A>C (EIF2B4)	NP_001305897.1:p.Asn236Thr
NM_001318969.1:c.674A>C (EIF2B4)	NP_001305898.1:p.Asn225Thr
XM_011533147.2:c.674A>C (EIF2B4)	XP_011531449.1:p.Asn225Thr
NM_001034116.2:c.1292A>C (EIF2B4) MANE Select	NP_001029288.1:p.Asn431Thr
NM_001318965.2:c.1355A>C (EIF2B4)	NP_001305894.1:p.Asn452Thr
NM_001318966.2:c.1247A>C (EIF2B4)	NP_001305895.1:p.Asn416Thr
NM_001318967.2:c.1199A>C (EIF2B4)	NP_001305896.1:p.Asn400Thr
NM_001318968.2:c.707A>C (EIF2B4)	NP_001305897.1:p.Asn236Thr
NM_001318969.2:c.674A>C (EIF2B4)	NP_001305898.1:p.Asn225Thr
NM_015636.4:c.1289A>C (EIF2B4)	NP_056451.3:p.Asn430Thr
NM_172195.4:c.1352A>C (EIF2B4)	NP_751945.2:p.Asn451Thr