Canonical Allele Identifier: CA425410424

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1422967742
• gnomAD v2: 2-27587751-T-A
• gnomAD v4: 2-27364884-T-A
• MyVariant Identifiers: chr2:g.27587751T>A (hg19) ; chr2:g.27364884T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364884T>A , CM000664.2:g.27364884T>A	GRCh38
NC_000002.11:g.27587751T>A , CM000664.1:g.27587751T>A	GRCh37
NC_000002.10:g.27441255T>A	NCBI36
NG_009305.1:g.10574A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1206A>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu402=
ENST00000347454.8:c.1206A>T (EIF2B4)	ENSP00000233552.5:p.Leu402=
ENST00000405940.6:c.*472A>T (EIF2B4)	ENSP00000384375.2:n.*472A>T
ENST00000445933.6:c.1203A>T (EIF2B4)	ENSP00000394397.2:p.Leu401=
ENST00000451130.6:c.1266A>T (EIF2B4)	ENSP00000394869.2:p.Leu422=
ENST00000478311.1:n.199A>T (EIF2B4)
ENST00000493344.6:c.1269A>T (EIF2B4)	ENSP00000429323.1:p.Leu423=
ENST00000616081.4:c.1197A>T (EIF2B4)	ENSP00000477710.1:p.Leu399=
ENST00000622434.4:c.*472A>T (EIF2B4)	ENSP00000479991.1:n.*472A>T
NM_001034116.1:c.1206A>T (EIF2B4)	NP_001029288.1:p.Leu402=
NM_015636.3:c.1203A>T (EIF2B4)	NP_056451.3:p.Leu401=
NM_172195.3:c.1266A>T (EIF2B4)	NP_751945.2:p.Leu422=
XM_005264632.1:c.1161A>T (EIF2B4)	XP_005264689.1:p.Leu387=
XM_006712132.1:c.1158A>T (EIF2B4)	XP_006712195.1:p.Leu386=
XM_011533147.1:c.588A>T (EIF2B4)	XP_011531449.1:p.Leu196=
XR_939868.1:n.1772-2540T>A (GTF3C2-AS2)
NM_001318965.1:c.1269A>T (EIF2B4)	NP_001305894.1:p.Leu423=
NM_001318966.1:c.1161A>T (EIF2B4)	NP_001305895.1:p.Leu387=
NM_001318967.1:c.1113A>T (EIF2B4)	NP_001305896.1:p.Leu371=
NM_001318968.1:c.621A>T (EIF2B4)	NP_001305897.1:p.Leu207=
NM_001318969.1:c.588A>T (EIF2B4)	NP_001305898.1:p.Leu196=
XM_011533147.2:c.588A>T (EIF2B4)	XP_011531449.1:p.Leu196=
NM_001034116.2:c.1206A>T (EIF2B4) MANE Select	NP_001029288.1:p.Leu402=
NM_001318965.2:c.1269A>T (EIF2B4)	NP_001305894.1:p.Leu423=
NM_001318966.2:c.1161A>T (EIF2B4)	NP_001305895.1:p.Leu387=
NM_001318967.2:c.1113A>T (EIF2B4)	NP_001305896.1:p.Leu371=
NM_001318968.2:c.621A>T (EIF2B4)	NP_001305897.1:p.Leu207=
NM_001318969.2:c.588A>T (EIF2B4)	NP_001305898.1:p.Leu196=
NM_015636.4:c.1203A>T (EIF2B4)	NP_056451.3:p.Leu401=
NM_172195.4:c.1266A>T (EIF2B4)	NP_751945.2:p.Leu422=