Canonical Allele Identifier: CA346197198

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587704A>C (hg19) ; chr2:g.27364837A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364837A>C , CM000664.2:g.27364837A>C	GRCh38
NC_000002.11:g.27587704A>C , CM000664.1:g.27587704A>C	GRCh37
NC_000002.10:g.27441208A>C	NCBI36
NG_009305.1:g.10621T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1253T>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Val418Gly
ENST00000347454.8:c.1253T>G (EIF2B4)	ENSP00000233552.5:p.Val418Gly
ENST00000405940.6:c.*519T>G (EIF2B4)	ENSP00000384375.2:n.*519T>G
ENST00000445933.6:c.1250T>G (EIF2B4)	ENSP00000394397.2:p.Val417Gly
ENST00000451130.6:c.1313T>G (EIF2B4)	ENSP00000394869.2:p.Val438Gly
ENST00000478311.1:n.246T>G (EIF2B4)
ENST00000493344.6:c.1316T>G (EIF2B4)	ENSP00000429323.1:p.Val439Gly
ENST00000616081.4:c.1244T>G (EIF2B4)	ENSP00000477710.1:p.Val415Gly
ENST00000622434.4:c.*519T>G (EIF2B4)	ENSP00000479991.1:n.*519T>G
NM_001034116.1:c.1253T>G (EIF2B4)	NP_001029288.1:p.Val418Gly
NM_015636.3:c.1250T>G (EIF2B4)	NP_056451.3:p.Val417Gly
NM_172195.3:c.1313T>G (EIF2B4)	NP_751945.2:p.Val438Gly
XM_005264632.1:c.1208T>G (EIF2B4)	XP_005264689.1:p.Val403Gly
XM_006712132.1:c.1205T>G (EIF2B4)	XP_006712195.1:p.Val402Gly
XM_011533147.1:c.635T>G (EIF2B4)	XP_011531449.1:p.Val212Gly
XR_939868.1:n.1772-2587A>C (GTF3C2-AS2)
NM_001318965.1:c.1316T>G (EIF2B4)	NP_001305894.1:p.Val439Gly
NM_001318966.1:c.1208T>G (EIF2B4)	NP_001305895.1:p.Val403Gly
NM_001318967.1:c.1160T>G (EIF2B4)	NP_001305896.1:p.Val387Gly
NM_001318968.1:c.668T>G (EIF2B4)	NP_001305897.1:p.Val223Gly
NM_001318969.1:c.635T>G (EIF2B4)	NP_001305898.1:p.Val212Gly
XM_011533147.2:c.635T>G (EIF2B4)	XP_011531449.1:p.Val212Gly
NM_001034116.2:c.1253T>G (EIF2B4) MANE Select	NP_001029288.1:p.Val418Gly
NM_001318965.2:c.1316T>G (EIF2B4)	NP_001305894.1:p.Val439Gly
NM_001318966.2:c.1208T>G (EIF2B4)	NP_001305895.1:p.Val403Gly
NM_001318967.2:c.1160T>G (EIF2B4)	NP_001305896.1:p.Val387Gly
NM_001318968.2:c.668T>G (EIF2B4)	NP_001305897.1:p.Val223Gly
NM_001318969.2:c.635T>G (EIF2B4)	NP_001305898.1:p.Val212Gly
NM_015636.4:c.1250T>G (EIF2B4)	NP_056451.3:p.Val417Gly
NM_172195.4:c.1313T>G (EIF2B4)	NP_751945.2:p.Val438Gly