Canonical Allele Identifier: CA1754477

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs752634778
• ExAC: 2:88874749 AT / A
• gnomAD v2: 2-88874749-AT-A
• gnomAD v4: 2-88575231-AT-A
• MyVariant Identifiers: chr2:g.88874750del (hg19) ; chr2:g.88575232del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575232del , CM000664.2:g.88575232del	GRCh38
NC_000002.11:g.88874750del , CM000664.1:g.88874750del	GRCh37
NC_000002.10:g.88655865del	NCBI36
NG_016424.1:g.57345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2079del
ENST00000682276.1:n.1696del
ENST00000682892.1:c.1798del	ENSP00000507214.1:p.Ile600SerfsTer?
ENST00000682952.1:n.1890del
ENST00000684455.1:c.1464del
ENST00000684642.1:c.1648del	ENSP00000507355.1:p.Ile550SerfsTer?
ENST00000684740.1:n.2429del
ENST00000303236.9:c.2251del MANE Select	ENSP00000307235.3:p.Ile751SerfsTer?
ENST00000652099.1:c.2445del
ENST00000652736.1:n.2127del
ENST00000303236.7:c.2251del	ENSP00000307235.3:p.Ile751SerfsTer?
ENST00000415570.1:c.1888del	ENSP00000412076.1:p.Ile630SerfsTer?
ENST00000419748.5:c.1798del	ENSP00000408325.1:p.Ile600SerfsTer?
ENST00000470706.1:n.48+129del
NM_001313915.1:c.1798del	NP_001300844.1:p.Ile600SerfsTer?
NM_004836.5:c.2251del	NP_004827.4:p.Ile751SerfsTer?
NM_004836.6:c.2251del	NP_004827.4:p.Ile751SerfsTer?
NR_110236.1:n.1369del
XM_005264649.3:c.1567del	XP_005264706.1:p.Ile523SerfsTer?
XM_017005376.2:c.1567del	XP_016860865.1:p.Ile523SerfsTer?
NM_004836.7:c.2251del MANE Select	NP_004827.4:p.Ile751SerfsTer?
NM_001313915.2:c.1798del	NP_001300844.1:p.Ile600SerfsTer?