Canonical Allele Identifier: CA1754714
Gene: EIF2AK3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.88588079C>T
GRCh37 chr2:g.88887597C>T
gnomAD v2:
2:88887597 C / T
gnomAD v3:
2:88588079 C / T
gnomAD v4:
chr2-88588079-C-T
Joint Max Group AF 0.00001928 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001785 (NFE)
ClinVar RCV:
RCV000276166
RCV001850817
ClinVar Variation:
337414
dbSNP:
779731596
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88588079C>T , CM000664.2:g.88588079C>T GRCh38
NC_000002.11:g.88887597C>T , CM000664.1:g.88887597C>T GRCh37
NC_000002.10:g.88668712C>T NCBI36
NG_016424.1:g.44498G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682276.1:n.777G>A
ENST00000682892.1:c.879G>A ENSP00000507214.1:p.Leu293=
ENST00000682952.1:n.971G>A
ENST00000684455.1:c.545G>A
ENST00000684642.1:c.729G>A ENSP00000507355.1:p.Leu243=
ENST00000303236.9:c.1332G>A MANE Select ENSP00000307235.3:p.Leu444=
ENST00000652099.1:c.1526G>A
ENST00000652736.1:n.1208G>A
ENST00000303236.7:c.1332G>A ENSP00000307235.3:p.Leu444=
ENST00000415570.1:c.969G>A ENSP00000412076.1:p.Leu323=
ENST00000419748.5:c.879G>A ENSP00000408325.1:p.Leu293=
NM_001313915.1:c.879G>A NP_001300844.1:p.Leu293=
NM_004836.5:c.1332G>A NP_004827.4:p.Leu444=
NM_004836.6:c.1332G>A NP_004827.4:p.Leu444=
XM_005264649.3:c.648G>A XP_005264706.1:p.Leu216=
XR_939749.1:n.1541G>A
XM_017005376.2:c.648G>A XP_016860865.1:p.Leu216=
NM_004836.7:c.1332G>A MANE Select NP_004827.4:p.Leu444=
NM_001313915.2:c.879G>A NP_001300844.1:p.Leu293=
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