Canonical Allele Identifier: CA425410506

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27589629T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366762T>A , CM000664.2:g.27366762T>A	GRCh38
NC_000002.11:g.27589629T>A , CM000664.1:g.27589629T>A	GRCh37
NC_000002.10:g.27443133T>A	NCBI36
NG_009305.1:g.8696A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1188A>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Pro396=
ENST00000347454.8:c.1188A>T (EIF2B4)	ENSP00000233552.5:p.Pro396=
ENST00000405940.6:c.*454A>T (EIF2B4)	ENSP00000384375.2:n.*454A>T
ENST00000445933.6:c.1185A>T (EIF2B4)	ENSP00000394397.2:p.Pro395=
ENST00000451130.6:c.1248A>T (EIF2B4)	ENSP00000394869.2:p.Pro416=
ENST00000475582.5:n.3089A>T (EIF2B4)
ENST00000493344.6:c.1251A>T (EIF2B4)	ENSP00000429323.1:p.Pro417=
ENST00000616081.4:c.1179A>T (EIF2B4)	ENSP00000477710.1:p.Pro393=
ENST00000622434.4:c.*454A>T (EIF2B4)	ENSP00000479991.1:n.*454A>T
NM_001034116.1:c.1188A>T (EIF2B4)	NP_001029288.1:p.Pro396=
NM_015636.3:c.1185A>T (EIF2B4)	NP_056451.3:p.Pro395=
NM_172195.3:c.1248A>T (EIF2B4)	NP_751945.2:p.Pro416=
XM_005264632.1:c.1143A>T (EIF2B4)	XP_005264689.1:p.Pro381=
XM_006712132.1:c.1140A>T (EIF2B4)	XP_006712195.1:p.Pro380=
XM_011533147.1:c.570A>T (EIF2B4)	XP_011531449.1:p.Pro190=
XR_939868.1:n.1772-662T>A (GTF3C2-AS2)
NM_001318965.1:c.1251A>T (EIF2B4)	NP_001305894.1:p.Pro417=
NM_001318966.1:c.1143A>T (EIF2B4)	NP_001305895.1:p.Pro381=
NM_001318967.1:c.1095A>T (EIF2B4)	NP_001305896.1:p.Pro365=
NM_001318968.1:c.603A>T (EIF2B4)	NP_001305897.1:p.Pro201=
NM_001318969.1:c.570A>T (EIF2B4)	NP_001305898.1:p.Pro190=
XM_011533147.2:c.570A>T (EIF2B4)	XP_011531449.1:p.Pro190=
NM_001034116.2:c.1188A>T (EIF2B4) MANE Select	NP_001029288.1:p.Pro396=
NM_001318965.2:c.1251A>T (EIF2B4)	NP_001305894.1:p.Pro417=
NM_001318966.2:c.1143A>T (EIF2B4)	NP_001305895.1:p.Pro381=
NM_001318967.2:c.1095A>T (EIF2B4)	NP_001305896.1:p.Pro365=
NM_001318968.2:c.603A>T (EIF2B4)	NP_001305897.1:p.Pro201=
NM_001318969.2:c.570A>T (EIF2B4)	NP_001305898.1:p.Pro190=
NM_015636.4:c.1185A>T (EIF2B4)	NP_056451.3:p.Pro395=
NM_172195.4:c.1248A>T (EIF2B4)	NP_751945.2:p.Pro416=