Canonical Allele Identifier: CA1754472
Gene: EIF2AK3 HGNC NCBI

Linked Data

dbSNP Id: rs745450377
gnomAD v2: 2-88874723-T-C
gnomAD v4: 2-88575205-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575205T>C , CM000664.2:g.88575205T>C GRCh38
NC_000002.11:g.88874723T>C , CM000664.1:g.88874723T>C GRCh37
NC_000002.10:g.88655838T>C NCBI36
NG_016424.1:g.57372A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2106A>G
ENST00000682276.1:n.1723A>G
ENST00000682892.1:c.1825A>G ENSP00000507214.1:p.Asn609Asp
ENST00000682952.1:n.1917A>G
ENST00000684455.1:c.1491A>G
ENST00000684642.1:c.1675A>G ENSP00000507355.1:p.Asn559Asp
ENST00000684740.1:n.2456A>G
ENST00000303236.9:c.2278A>G MANE Select ENSP00000307235.3:p.Asn760Asp
ENST00000652099.1:c.2472A>G
ENST00000652736.1:n.2154A>G
ENST00000303236.7:c.2278A>G ENSP00000307235.3:p.Asn760Asp
ENST00000415570.1:c.1915A>G ENSP00000412076.1:p.Asn639Asp
ENST00000419748.5:c.1825A>G ENSP00000408325.1:p.Asn609Asp
ENST00000470706.1:n.49-128A>G
NM_001313915.1:c.1825A>G NP_001300844.1:p.Asn609Asp
NM_004836.5:c.2278A>G NP_004827.4:p.Asn760Asp
NM_004836.6:c.2278A>G NP_004827.4:p.Asn760Asp
NR_110236.1:n.1342T>C
XM_005264649.3:c.1594A>G XP_005264706.1:p.Asn532Asp
XM_017005376.2:c.1594A>G XP_016860865.1:p.Asn532Asp
NM_004836.7:c.2278A>G MANE Select NP_004827.4:p.Asn760Asp
NM_001313915.2:c.1825A>G NP_001300844.1:p.Asn609Asp