Canonical Allele Identifier: CA152715
Gene: EIF2AK3 HGNC NCBI
COSMIC:
COSM3736267 (not active)
COSM3736268 (not active)
MyVariant.info:
GRCh38 chr2:g.88613755G>C
GRCh37 chr2:g.88913273G>C
Revel Score:
ENST00000303236 (MANE Select) 0.061
gnomAD v2:
2:88913273 G / C
gnomAD v3:
2:88613755 G / C
gnomAD v4:
chr2-88613755-G-C
Joint Max Group AF 0.44990755 (EAS)
Genomes Max Group AF 0.45836308 (EAS)
Exomes Max Group AF 0.44713988 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88613755G>C , CM000664.2:g.88613755G>C GRCh38
NC_000002.11:g.88913273G>C , CM000664.1:g.88913273G>C GRCh37
NC_000002.10:g.88694388G>C NCBI36
NG_016424.1:g.18822C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682892.1:c.-47C>G ENSP00000507214.1:n.-47C>G
ENST00000303236.9:c.407C>G MANE Select ENSP00000307235.3:p.Ser136Cys
ENST00000652099.1:c.405C>G
ENST00000652423.1:c.*91C>G ENSP00000498948.1:n.*91C>G
ENST00000652736.1:n.283C>G
ENST00000303236.7:c.407C>G ENSP00000307235.3:p.Ser136Cys
ENST00000419748.5:c.-47C>G ENSP00000408325.1:n.-47C>G
NM_001313915.1:c.-47C>G NP_001300844.1:n.-47C>G
NM_004836.5:c.407C>G NP_004827.4:p.Ser136Cys
NM_004836.6:c.407C>G NP_004827.4:p.Ser136Cys
XR_939749.1:n.616C>G
XM_017005376.2:c.-474C>G XP_016860865.1:n.-474C>G
NM_004836.7:c.407C>G MANE Select NP_004827.4:p.Ser136Cys
NM_001313915.2:c.-47C>G NP_001300844.1:n.-47C>G
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