Canonical Allele Identifier: CA346197293

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1178064509
• MyVariant Identifiers: chr2:g.27587737G>A (hg19) ; chr2:g.27364870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364870G>A , CM000664.2:g.27364870G>A	GRCh38
NC_000002.11:g.27587737G>A , CM000664.1:g.27587737G>A	GRCh37
NC_000002.10:g.27441241G>A	NCBI36
NG_009305.1:g.10588C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1220C>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Ala407Val
ENST00000347454.8:c.1220C>T (EIF2B4)	ENSP00000233552.5:p.Ala407Val
ENST00000405940.6:c.*486C>T (EIF2B4)	ENSP00000384375.2:n.*486C>T
ENST00000445933.6:c.1217C>T (EIF2B4)	ENSP00000394397.2:p.Ala406Val
ENST00000451130.6:c.1280C>T (EIF2B4)	ENSP00000394869.2:p.Ala427Val
ENST00000478311.1:n.213C>T (EIF2B4)
ENST00000493344.6:c.1283C>T (EIF2B4)	ENSP00000429323.1:p.Ala428Val
ENST00000616081.4:c.1211C>T (EIF2B4)	ENSP00000477710.1:p.Ala404Val
ENST00000622434.4:c.*486C>T (EIF2B4)	ENSP00000479991.1:n.*486C>T
NM_001034116.1:c.1220C>T (EIF2B4)	NP_001029288.1:p.Ala407Val
NM_015636.3:c.1217C>T (EIF2B4)	NP_056451.3:p.Ala406Val
NM_172195.3:c.1280C>T (EIF2B4)	NP_751945.2:p.Ala427Val
XM_005264632.1:c.1175C>T (EIF2B4)	XP_005264689.1:p.Ala392Val
XM_006712132.1:c.1172C>T (EIF2B4)	XP_006712195.1:p.Ala391Val
XM_011533147.1:c.602C>T (EIF2B4)	XP_011531449.1:p.Ala201Val
XR_939868.1:n.1772-2554G>A (GTF3C2-AS2)
NM_001318965.1:c.1283C>T (EIF2B4)	NP_001305894.1:p.Ala428Val
NM_001318966.1:c.1175C>T (EIF2B4)	NP_001305895.1:p.Ala392Val
NM_001318967.1:c.1127C>T (EIF2B4)	NP_001305896.1:p.Ala376Val
NM_001318968.1:c.635C>T (EIF2B4)	NP_001305897.1:p.Ala212Val
NM_001318969.1:c.602C>T (EIF2B4)	NP_001305898.1:p.Ala201Val
XM_011533147.2:c.602C>T (EIF2B4)	XP_011531449.1:p.Ala201Val
NM_001034116.2:c.1220C>T (EIF2B4) MANE Select	NP_001029288.1:p.Ala407Val
NM_001318965.2:c.1283C>T (EIF2B4)	NP_001305894.1:p.Ala428Val
NM_001318966.2:c.1175C>T (EIF2B4)	NP_001305895.1:p.Ala392Val
NM_001318967.2:c.1127C>T (EIF2B4)	NP_001305896.1:p.Ala376Val
NM_001318968.2:c.635C>T (EIF2B4)	NP_001305897.1:p.Ala212Val
NM_001318969.2:c.602C>T (EIF2B4)	NP_001305898.1:p.Ala201Val
NM_015636.4:c.1217C>T (EIF2B4)	NP_056451.3:p.Ala406Val
NM_172195.4:c.1280C>T (EIF2B4)	NP_751945.2:p.Ala427Val