Canonical Allele Identifier: CA351491
Gene: EIF2AK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 5876
ClinVar RCV Id: RCV000006234
dbSNP Id: rs869025179
MyVariant Identifiers: chr2:g.88870391C>T (hg19) chr2:g.88570873C>T (hg38)
PubMed: PMID:7551159 PMID:12960215
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88570873C>T , CM000664.2:g.88570873C>T GRCh38
NC_000002.11:g.88870391C>T , CM000664.1:g.88870391C>T GRCh37
NC_000002.10:g.88651506C>T NCBI36
NG_016424.1:g.61704G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000478003.2:n.2814G>A
ENST00000682103.1:c.526+1G>A
ENST00000682276.1:n.2430+1G>A
ENST00000682468.1:n.523+1G>A
ENST00000682603.1:c.217+1G>A
ENST00000682844.1:c.41+1G>A
ENST00000682892.1:c.2532+1G>A ENSP00000507214.1:n.2532+1G>A
ENST00000682952.1:n.2624+1G>A
ENST00000684455.1:c.2198+1G>A
ENST00000684642.1:c.2214+3793G>A ENSP00000507355.1:n.2214+3793G>A
ENST00000684740.1:n.3163+1G>A
ENST00000303236.9:c.2985+1G>A MANE Select ENSP00000307235.3:n.2985+1G>A
ENST00000652099.1:c.3179+1G>A
ENST00000652736.1:n.2861+1G>A
ENST00000303236.7:c.2985+1G>A ENSP00000307235.3:n.2985+1G>A
ENST00000415570.1:c.2622+1G>A ENSP00000412076.1:n.2622+1G>A
ENST00000419748.5:c.2532+1G>A ENSP00000408325.1:n.2532+1G>A
NM_001313915.1:c.2532+1G>A NP_001300844.1:n.2532+1G>A
NM_004836.5:c.2985+1G>A NP_004827.4:n.2985+1G>A
NM_004836.6:c.2985+1G>A NP_004827.4:n.2985+1G>A
NR_110236.1:n.651-3641C>T
XM_005264649.3:c.2301+1G>A XP_005264706.1:n.2301+1G>A
XM_017005376.2:c.2301+1G>A XP_016860865.1:n.2301+1G>A
NM_004836.7:c.2985+1G>A MANE Select NP_004827.4:n.2985+1G>A
NM_001313915.2:c.2532+1G>A NP_001300844.1:n.2532+1G>A
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