Canonical Allele Identifier: CA1754451

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1020528
• ClinVar RCV Id: RCV001320118
• dbSNP Id: rs767541817
• ExAC: 2:88874538 CTCT / C
• gnomAD v2: 2-88874538-CTCT-C
• gnomAD v3: 2-88575020-CTCT-C
• gnomAD v4: 2-88575020-CTCT-C
• MyVariant Identifiers: chr2:g.88874539_88874541del (hg19) ; chr2:g.88575021_88575023del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575025_88575027del , CM000664.2:g.88575025_88575027del	GRCh38
NC_000002.11:g.88874543_88874545del , CM000664.1:g.88874543_88874545del	GRCh37
NC_000002.10:g.88655658_88655660del	NCBI36
NG_016424.1:g.57554_57556del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2288_2290del
ENST00000682276.1:n.1905_1907del
ENST00000682892.1:c.2007_2009del	ENSP00000507214.1:p.Glu670del
ENST00000682952.1:n.2099_2101del
ENST00000684455.1:c.1673_1675del
ENST00000684642.1:c.1857_1859del	ENSP00000507355.1:p.Glu620del
ENST00000684740.1:n.2638_2640del
ENST00000303236.9:c.2460_2462del MANE Select	ENSP00000307235.3:p.Glu821del
ENST00000652099.1:c.2654_2656del
ENST00000652736.1:n.2336_2338del
ENST00000303236.7:c.2460_2462del	ENSP00000307235.3:p.Glu821del
ENST00000415570.1:c.2097_2099del	ENSP00000412076.1:p.Glu700del
ENST00000419748.5:c.2007_2009del	ENSP00000408325.1:p.Glu670del
ENST00000470706.1:n.103_105del
NM_001313915.1:c.2007_2009del	NP_001300844.1:p.Glu670del
NM_004836.5:c.2460_2462del	NP_004827.4:p.Glu821del
NM_004836.6:c.2460_2462del	NP_004827.4:p.Glu821del
NR_110236.1:n.1162_1164del
XM_005264649.3:c.1776_1778del	XP_005264706.1:p.Glu593del
XM_017005376.2:c.1776_1778del	XP_016860865.1:p.Glu593del
NM_004836.7:c.2460_2462del MANE Select	NP_004827.4:p.Glu821del
NM_001313915.2:c.2007_2009del	NP_001300844.1:p.Glu670del