Canonical Allele Identifier: CA347592662

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1463386
• ClinVar RCV Id: RCV001961020 ; RCV002569198 ; RCV002492151
• dbSNP Id: rs2104411903
• gnomAD v4: 2-88575324-C-T
• MyVariant Identifiers: chr2:g.88874842C>T (hg19) ; chr2:g.88575324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575324C>T , CM000664.2:g.88575324C>T	GRCh38
NC_000002.11:g.88874842C>T , CM000664.1:g.88874842C>T	GRCh37
NC_000002.10:g.88655957C>T	NCBI36
NG_016424.1:g.57253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1987G>A
ENST00000682276.1:n.1604G>A
ENST00000682892.1:c.1706G>A	ENSP00000507214.1:p.Arg569Lys
ENST00000682952.1:n.1798G>A
ENST00000684455.1:c.1372G>A
ENST00000684642.1:c.1556G>A	ENSP00000507355.1:p.Arg519Lys
ENST00000684740.1:n.2337G>A
ENST00000303236.9:c.2159G>A MANE Select	ENSP00000307235.3:p.Arg720Lys
ENST00000652099.1:c.2353G>A
ENST00000652736.1:n.2035G>A
ENST00000303236.7:c.2159G>A	ENSP00000307235.3:p.Arg720Lys
ENST00000415570.1:c.1796G>A	ENSP00000412076.1:p.Arg599Lys
ENST00000419748.5:c.1706G>A	ENSP00000408325.1:p.Arg569Lys
ENST00000470706.1:n.48+37G>A
NM_001313915.1:c.1706G>A	NP_001300844.1:p.Arg569Lys
NM_004836.5:c.2159G>A	NP_004827.4:p.Arg720Lys
NM_004836.6:c.2159G>A	NP_004827.4:p.Arg720Lys
NR_110236.1:n.1461C>T
XM_005264649.3:c.1475G>A	XP_005264706.1:p.Arg492Lys
XR_939749.1:n.2438G>A
XM_017005376.2:c.1475G>A	XP_016860865.1:p.Arg492Lys
NM_004836.7:c.2159G>A MANE Select	NP_004827.4:p.Arg720Lys
NM_001313915.2:c.1706G>A	NP_001300844.1:p.Arg569Lys