Canonical Allele Identifier: CA346196671

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587401C>G (hg19) ; chr2:g.27364534C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364534C>G , CM000664.2:g.27364534C>G	GRCh38
NC_000002.11:g.27587401C>G , CM000664.1:g.27587401C>G	GRCh37
NC_000002.10:g.27440905C>G	NCBI36
NG_009305.1:g.10924G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1438G>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Ala480Pro
ENST00000347454.8:c.1438G>C (EIF2B4)	ENSP00000233552.5:p.Ala480Pro
ENST00000405940.6:c.*704G>C (EIF2B4)	ENSP00000384375.2:n.*704G>C
ENST00000445933.6:c.1435G>C (EIF2B4)	ENSP00000394397.2:p.Ala479Pro
ENST00000451130.6:c.1498G>C (EIF2B4)	ENSP00000394869.2:p.Ala500Pro
ENST00000478311.1:n.431G>C (EIF2B4)
ENST00000493344.6:c.1501G>C (EIF2B4)	ENSP00000429323.1:p.Ala501Pro
ENST00000616081.4:c.1429G>C (EIF2B4)	ENSP00000477710.1:p.Ala477Pro
ENST00000622434.4:c.*704G>C (EIF2B4)	ENSP00000479991.1:n.*704G>C
NM_001034116.1:c.1438G>C (EIF2B4)	NP_001029288.1:p.Ala480Pro
NM_015636.3:c.1435G>C (EIF2B4)	NP_056451.3:p.Ala479Pro
NM_172195.3:c.1498G>C (EIF2B4)	NP_751945.2:p.Ala500Pro
XM_005264632.1:c.1393G>C (EIF2B4)	XP_005264689.1:p.Ala465Pro
XM_006712132.1:c.1390G>C (EIF2B4)	XP_006712195.1:p.Ala464Pro
XM_011533147.1:c.820G>C (EIF2B4)	XP_011531449.1:p.Ala274Pro
XR_939868.1:n.1772-2890C>G (GTF3C2-AS2)
NM_001318965.1:c.1501G>C (EIF2B4)	NP_001305894.1:p.Ala501Pro
NM_001318966.1:c.1393G>C (EIF2B4)	NP_001305895.1:p.Ala465Pro
NM_001318967.1:c.1345G>C (EIF2B4)	NP_001305896.1:p.Ala449Pro
NM_001318968.1:c.853G>C (EIF2B4)	NP_001305897.1:p.Ala285Pro
NM_001318969.1:c.820G>C (EIF2B4)	NP_001305898.1:p.Ala274Pro
XM_011533147.2:c.820G>C (EIF2B4)	XP_011531449.1:p.Ala274Pro
NM_001034116.2:c.1438G>C (EIF2B4) MANE Select	NP_001029288.1:p.Ala480Pro
NM_001318965.2:c.1501G>C (EIF2B4)	NP_001305894.1:p.Ala501Pro
NM_001318966.2:c.1393G>C (EIF2B4)	NP_001305895.1:p.Ala465Pro
NM_001318967.2:c.1345G>C (EIF2B4)	NP_001305896.1:p.Ala449Pro
NM_001318968.2:c.853G>C (EIF2B4)	NP_001305897.1:p.Ala285Pro
NM_001318969.2:c.820G>C (EIF2B4)	NP_001305898.1:p.Ala274Pro
NM_015636.4:c.1435G>C (EIF2B4)	NP_056451.3:p.Ala479Pro
NM_172195.4:c.1498G>C (EIF2B4)	NP_751945.2:p.Ala500Pro