Canonical Allele Identifier: CA346196847

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587593T>A (hg19) ; chr2:g.27364726T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364726T>A , CM000664.2:g.27364726T>A	GRCh38
NC_000002.11:g.27587593T>A , CM000664.1:g.27587593T>A	GRCh37
NC_000002.10:g.27441097T>A	NCBI36
NG_009305.1:g.10732A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1364A>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Asn455Ile
ENST00000347454.8:c.1364A>T (EIF2B4)	ENSP00000233552.5:p.Asn455Ile
ENST00000405940.6:c.*630A>T (EIF2B4)	ENSP00000384375.2:n.*630A>T
ENST00000445933.6:c.1361A>T (EIF2B4)	ENSP00000394397.2:p.Asn454Ile
ENST00000451130.6:c.1424A>T (EIF2B4)	ENSP00000394869.2:p.Asn475Ile
ENST00000478311.1:n.357A>T (EIF2B4)
ENST00000493344.6:c.1427A>T (EIF2B4)	ENSP00000429323.1:p.Asn476Ile
ENST00000616081.4:c.1355A>T (EIF2B4)	ENSP00000477710.1:p.Asn452Ile
ENST00000622434.4:c.*630A>T (EIF2B4)	ENSP00000479991.1:n.*630A>T
NM_001034116.1:c.1364A>T (EIF2B4)	NP_001029288.1:p.Asn455Ile
NM_015636.3:c.1361A>T (EIF2B4)	NP_056451.3:p.Asn454Ile
NM_172195.3:c.1424A>T (EIF2B4)	NP_751945.2:p.Asn475Ile
XM_005264632.1:c.1319A>T (EIF2B4)	XP_005264689.1:p.Asn440Ile
XM_006712132.1:c.1316A>T (EIF2B4)	XP_006712195.1:p.Asn439Ile
XM_011533147.1:c.746A>T (EIF2B4)	XP_011531449.1:p.Asn249Ile
XR_939868.1:n.1772-2698T>A (GTF3C2-AS2)
NM_001318965.1:c.1427A>T (EIF2B4)	NP_001305894.1:p.Asn476Ile
NM_001318966.1:c.1319A>T (EIF2B4)	NP_001305895.1:p.Asn440Ile
NM_001318967.1:c.1271A>T (EIF2B4)	NP_001305896.1:p.Asn424Ile
NM_001318968.1:c.779A>T (EIF2B4)	NP_001305897.1:p.Asn260Ile
NM_001318969.1:c.746A>T (EIF2B4)	NP_001305898.1:p.Asn249Ile
XM_011533147.2:c.746A>T (EIF2B4)	XP_011531449.1:p.Asn249Ile
NM_001034116.2:c.1364A>T (EIF2B4) MANE Select	NP_001029288.1:p.Asn455Ile
NM_001318965.2:c.1427A>T (EIF2B4)	NP_001305894.1:p.Asn476Ile
NM_001318966.2:c.1319A>T (EIF2B4)	NP_001305895.1:p.Asn440Ile
NM_001318967.2:c.1271A>T (EIF2B4)	NP_001305896.1:p.Asn424Ile
NM_001318968.2:c.779A>T (EIF2B4)	NP_001305897.1:p.Asn260Ile
NM_001318969.2:c.746A>T (EIF2B4)	NP_001305898.1:p.Asn249Ile
NM_015636.4:c.1361A>T (EIF2B4)	NP_056451.3:p.Asn454Ile
NM_172195.4:c.1424A>T (EIF2B4)	NP_751945.2:p.Asn475Ile