Canonical Allele Identifier: CA2660012627
Gene: EIF2AK3 HGNC NCBI

Linked Data

gnomAD v4: 2-88583345-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88583345T>C , CM000664.2:g.88583345T>C GRCh38
NC_000002.11:g.88882863T>C , CM000664.1:g.88882863T>C GRCh37
NC_000002.10:g.88663978T>C NCBI36
NG_016424.1:g.49232A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682276.1:n.1208+85A>G
ENST00000682892.1:c.1310+85A>G ENSP00000507214.1:n.1310+85A>G
ENST00000682952.1:n.1402+85A>G
ENST00000684455.1:c.976+85A>G
ENST00000684642.1:c.1160+85A>G ENSP00000507355.1:n.1160+85A>G
ENST00000303236.9:c.1763+85A>G MANE Select ENSP00000307235.3:n.1763+85A>G
ENST00000652099.1:c.1957+85A>G
ENST00000652736.1:n.1639+85A>G
ENST00000303236.7:c.1763+85A>G ENSP00000307235.3:n.1763+85A>G
ENST00000415570.1:c.1400+85A>G ENSP00000412076.1:n.1400+85A>G
ENST00000419748.5:c.1310+85A>G ENSP00000408325.1:n.1310+85A>G
NM_001313915.1:c.1310+85A>G NP_001300844.1:n.1310+85A>G
NM_004836.5:c.1763+85A>G NP_004827.4:n.1763+85A>G
NM_004836.6:c.1763+85A>G NP_004827.4:n.1763+85A>G
XM_005264649.3:c.1079+85A>G XP_005264706.1:n.1079+85A>G
XR_939749.1:n.1972+85A>G
XM_017005376.2:c.1079+85A>G XP_016860865.1:n.1079+85A>G
NM_004836.7:c.1763+85A>G MANE Select NP_004827.4:n.1763+85A>G
NM_001313915.2:c.1310+85A>G NP_001300844.1:n.1310+85A>G