Canonical Allele Identifier: CA1754468
Gene: EIF2AK3 HGNC NCBI

Linked Data

dbSNP Id: rs778113344
gnomAD v2: 2-88874705-G-A
gnomAD v4: 2-88575187-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575187G>A , CM000664.2:g.88575187G>A GRCh38
NC_000002.11:g.88874705G>A , CM000664.1:g.88874705G>A GRCh37
NC_000002.10:g.88655820G>A NCBI36
NG_016424.1:g.57390C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2124C>T
ENST00000682276.1:n.1741C>T
ENST00000682892.1:c.1843C>T ENSP00000507214.1:p.Leu615Phe
ENST00000682952.1:n.1935C>T
ENST00000684455.1:c.1509C>T
ENST00000684642.1:c.1693C>T ENSP00000507355.1:p.Leu565Phe
ENST00000684740.1:n.2474C>T
ENST00000303236.9:c.2296C>T MANE Select ENSP00000307235.3:p.Leu766Phe
ENST00000652099.1:c.2490C>T
ENST00000652736.1:n.2172C>T
ENST00000303236.7:c.2296C>T ENSP00000307235.3:p.Leu766Phe
ENST00000415570.1:c.1933C>T ENSP00000412076.1:p.Leu645Phe
ENST00000419748.5:c.1843C>T ENSP00000408325.1:p.Leu615Phe
ENST00000470706.1:n.49-110C>T
NM_001313915.1:c.1843C>T NP_001300844.1:p.Leu615Phe
NM_004836.5:c.2296C>T NP_004827.4:p.Leu766Phe
NM_004836.6:c.2296C>T NP_004827.4:p.Leu766Phe
NR_110236.1:n.1324G>A
XM_005264649.3:c.1612C>T XP_005264706.1:p.Leu538Phe
XM_017005376.2:c.1612C>T XP_016860865.1:p.Leu538Phe
NM_004836.7:c.2296C>T MANE Select NP_004827.4:p.Leu766Phe
NM_001313915.2:c.1843C>T NP_001300844.1:p.Leu615Phe