Canonical Allele Identifier: CA1576612

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 1417167
• ClinVar RCV Id: RCV001923523
• dbSNP Id: rs759071387
• ExAC: 2:27587708 G / A
• gnomAD v2: 2-27587708-G-A
• gnomAD v3: 2-27364841-G-A
• gnomAD v4: 2-27364841-G-A
• MyVariant Identifiers: chr2:g.27587708G>A (hg19) ; chr2:g.27364841G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364841G>A , CM000664.2:g.27364841G>A	GRCh38
NC_000002.11:g.27587708G>A , CM000664.1:g.27587708G>A	GRCh37
NC_000002.10:g.27441212G>A	NCBI36
NG_009305.1:g.10617C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1249C>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Arg417Trp
ENST00000347454.8:c.1249C>T (EIF2B4)	ENSP00000233552.5:p.Arg417Trp
ENST00000405940.6:c.*515C>T (EIF2B4)	ENSP00000384375.2:n.*515C>T
ENST00000445933.6:c.1246C>T (EIF2B4)	ENSP00000394397.2:p.Arg416Trp
ENST00000451130.6:c.1309C>T (EIF2B4)	ENSP00000394869.2:p.Arg437Trp
ENST00000478311.1:n.242C>T (EIF2B4)
ENST00000493344.6:c.1312C>T (EIF2B4)	ENSP00000429323.1:p.Arg438Trp
ENST00000616081.4:c.1240C>T (EIF2B4)	ENSP00000477710.1:p.Arg414Trp
ENST00000622434.4:c.*515C>T (EIF2B4)	ENSP00000479991.1:n.*515C>T
NM_001034116.1:c.1249C>T (EIF2B4)	NP_001029288.1:p.Arg417Trp
NM_015636.3:c.1246C>T (EIF2B4)	NP_056451.3:p.Arg416Trp
NM_172195.3:c.1309C>T (EIF2B4)	NP_751945.2:p.Arg437Trp
XM_005264632.1:c.1204C>T (EIF2B4)	XP_005264689.1:p.Arg402Trp
XM_006712132.1:c.1201C>T (EIF2B4)	XP_006712195.1:p.Arg401Trp
XM_011533147.1:c.631C>T (EIF2B4)	XP_011531449.1:p.Arg211Trp
XR_939868.1:n.1772-2583G>A (GTF3C2-AS2)
NM_001318965.1:c.1312C>T (EIF2B4)	NP_001305894.1:p.Arg438Trp
NM_001318966.1:c.1204C>T (EIF2B4)	NP_001305895.1:p.Arg402Trp
NM_001318967.1:c.1156C>T (EIF2B4)	NP_001305896.1:p.Arg386Trp
NM_001318968.1:c.664C>T (EIF2B4)	NP_001305897.1:p.Arg222Trp
NM_001318969.1:c.631C>T (EIF2B4)	NP_001305898.1:p.Arg211Trp
XM_011533147.2:c.631C>T (EIF2B4)	XP_011531449.1:p.Arg211Trp
NM_001034116.2:c.1249C>T (EIF2B4) MANE Select	NP_001029288.1:p.Arg417Trp
NM_001318965.2:c.1312C>T (EIF2B4)	NP_001305894.1:p.Arg438Trp
NM_001318966.2:c.1204C>T (EIF2B4)	NP_001305895.1:p.Arg402Trp
NM_001318967.2:c.1156C>T (EIF2B4)	NP_001305896.1:p.Arg386Trp
NM_001318968.2:c.664C>T (EIF2B4)	NP_001305897.1:p.Arg222Trp
NM_001318969.2:c.631C>T (EIF2B4)	NP_001305898.1:p.Arg211Trp
NM_015636.4:c.1246C>T (EIF2B4)	NP_056451.3:p.Arg416Trp
NM_172195.4:c.1309C>T (EIF2B4)	NP_751945.2:p.Arg437Trp