Canonical Allele Identifier: CA346197895

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27589700G>T (hg19) ; chr2:g.27366833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366833G>T , CM000664.2:g.27366833G>T	GRCh38
NC_000002.11:g.27589700G>T , CM000664.1:g.27589700G>T	GRCh37
NC_000002.10:g.27443204G>T	NCBI36
NG_009305.1:g.8625C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1117C>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu373Ile
ENST00000347454.8:c.1117C>A (EIF2B4)	ENSP00000233552.5:p.Leu373Ile
ENST00000405940.6:c.*383C>A (EIF2B4)	ENSP00000384375.2:n.*383C>A
ENST00000417567.1:c.691C>A (EIF2B4)
ENST00000445933.6:c.1114C>A (EIF2B4)	ENSP00000394397.2:p.Leu372Ile
ENST00000451130.6:c.1177C>A (EIF2B4)	ENSP00000394869.2:p.Leu393Ile
ENST00000475582.5:n.3018C>A (EIF2B4)
ENST00000493344.6:c.1180C>A (EIF2B4)	ENSP00000429323.1:p.Leu394Ile
ENST00000616081.4:c.1108C>A (EIF2B4)	ENSP00000477710.1:p.Leu370Ile
ENST00000622434.4:c.*383C>A (EIF2B4)	ENSP00000479991.1:n.*383C>A
NM_001034116.1:c.1117C>A (EIF2B4)	NP_001029288.1:p.Leu373Ile
NM_015636.3:c.1114C>A (EIF2B4)	NP_056451.3:p.Leu372Ile
NM_172195.3:c.1177C>A (EIF2B4)	NP_751945.2:p.Leu393Ile
XM_005264632.1:c.1072C>A (EIF2B4)	XP_005264689.1:p.Leu358Ile
XM_006712132.1:c.1069C>A (EIF2B4)	XP_006712195.1:p.Leu357Ile
XM_011533147.1:c.499C>A (EIF2B4)	XP_011531449.1:p.Leu167Ile
XR_939868.1:n.1772-591G>T (GTF3C2-AS2)
NM_001318965.1:c.1180C>A (EIF2B4)	NP_001305894.1:p.Leu394Ile
NM_001318966.1:c.1072C>A (EIF2B4)	NP_001305895.1:p.Leu358Ile
NM_001318967.1:c.1024C>A (EIF2B4)	NP_001305896.1:p.Leu342Ile
NM_001318968.1:c.532C>A (EIF2B4)	NP_001305897.1:p.Leu178Ile
NM_001318969.1:c.499C>A (EIF2B4)	NP_001305898.1:p.Leu167Ile
XM_011533147.2:c.499C>A (EIF2B4)	XP_011531449.1:p.Leu167Ile
NM_001034116.2:c.1117C>A (EIF2B4) MANE Select	NP_001029288.1:p.Leu373Ile
NM_001318965.2:c.1180C>A (EIF2B4)	NP_001305894.1:p.Leu394Ile
NM_001318966.2:c.1072C>A (EIF2B4)	NP_001305895.1:p.Leu358Ile
NM_001318967.2:c.1024C>A (EIF2B4)	NP_001305896.1:p.Leu342Ile
NM_001318968.2:c.532C>A (EIF2B4)	NP_001305897.1:p.Leu178Ile
NM_001318969.2:c.499C>A (EIF2B4)	NP_001305898.1:p.Leu167Ile
NM_015636.4:c.1114C>A (EIF2B4)	NP_056451.3:p.Leu372Ile
NM_172195.4:c.1177C>A (EIF2B4)	NP_751945.2:p.Leu393Ile