Canonical Allele Identifier: CA346196664

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587395G>T (hg19) ; chr2:g.27364528G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364528G>T , CM000664.2:g.27364528G>T	GRCh38
NC_000002.11:g.27587395G>T , CM000664.1:g.27587395G>T	GRCh37
NC_000002.10:g.27440899G>T	NCBI36
NG_009305.1:g.10930C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1444C>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu482Ile
ENST00000347454.8:c.1444C>A (EIF2B4)	ENSP00000233552.5:p.Leu482Ile
ENST00000405940.6:c.*710C>A (EIF2B4)	ENSP00000384375.2:n.*710C>A
ENST00000445933.6:c.1441C>A (EIF2B4)	ENSP00000394397.2:p.Leu481Ile
ENST00000451130.6:c.1504C>A (EIF2B4)	ENSP00000394869.2:p.Leu502Ile
ENST00000478311.1:n.437C>A (EIF2B4)
ENST00000493344.6:c.1507C>A (EIF2B4)	ENSP00000429323.1:p.Leu503Ile
ENST00000616081.4:c.1435C>A (EIF2B4)	ENSP00000477710.1:p.Leu479Ile
ENST00000622434.4:c.*710C>A (EIF2B4)	ENSP00000479991.1:n.*710C>A
NM_001034116.1:c.1444C>A (EIF2B4)	NP_001029288.1:p.Leu482Ile
NM_015636.3:c.1441C>A (EIF2B4)	NP_056451.3:p.Leu481Ile
NM_172195.3:c.1504C>A (EIF2B4)	NP_751945.2:p.Leu502Ile
XM_005264632.1:c.1399C>A (EIF2B4)	XP_005264689.1:p.Leu467Ile
XM_006712132.1:c.1396C>A (EIF2B4)	XP_006712195.1:p.Leu466Ile
XM_011533147.1:c.826C>A (EIF2B4)	XP_011531449.1:p.Leu276Ile
XR_939868.1:n.1772-2896G>T (GTF3C2-AS2)
NM_001318965.1:c.1507C>A (EIF2B4)	NP_001305894.1:p.Leu503Ile
NM_001318966.1:c.1399C>A (EIF2B4)	NP_001305895.1:p.Leu467Ile
NM_001318967.1:c.1351C>A (EIF2B4)	NP_001305896.1:p.Leu451Ile
NM_001318968.1:c.859C>A (EIF2B4)	NP_001305897.1:p.Leu287Ile
NM_001318969.1:c.826C>A (EIF2B4)	NP_001305898.1:p.Leu276Ile
XM_011533147.2:c.826C>A (EIF2B4)	XP_011531449.1:p.Leu276Ile
NM_001034116.2:c.1444C>A (EIF2B4) MANE Select	NP_001029288.1:p.Leu482Ile
NM_001318965.2:c.1507C>A (EIF2B4)	NP_001305894.1:p.Leu503Ile
NM_001318966.2:c.1399C>A (EIF2B4)	NP_001305895.1:p.Leu467Ile
NM_001318967.2:c.1351C>A (EIF2B4)	NP_001305896.1:p.Leu451Ile
NM_001318968.2:c.859C>A (EIF2B4)	NP_001305897.1:p.Leu287Ile
NM_001318969.2:c.826C>A (EIF2B4)	NP_001305898.1:p.Leu276Ile
NM_015636.4:c.1441C>A (EIF2B4)	NP_056451.3:p.Leu481Ile
NM_172195.4:c.1504C>A (EIF2B4)	NP_751945.2:p.Leu502Ile