Canonical Allele Identifier: CA1754509

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1360338
• ClinVar RCV Id: RCV001904841
• dbSNP Id: rs780592115
• ExAC: 2:88874908 C / A
• gnomAD v2: 2-88874908-C-A
• gnomAD v4: 2-88575390-C-A
• MyVariant Identifiers: chr2:g.88874908C>A (hg19) ; chr2:g.88575390C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575390C>A , CM000664.2:g.88575390C>A	GRCh38
NC_000002.11:g.88874908C>A , CM000664.1:g.88874908C>A	GRCh37
NC_000002.10:g.88656023C>A	NCBI36
NG_016424.1:g.57187G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1921G>T
ENST00000682276.1:n.1538G>T
ENST00000682892.1:c.1640G>T	ENSP00000507214.1:p.Arg547Leu
ENST00000682952.1:n.1732G>T
ENST00000684455.1:c.1306G>T
ENST00000684642.1:c.1490G>T	ENSP00000507355.1:p.Arg497Leu
ENST00000684740.1:n.2271G>T
ENST00000303236.9:c.2093G>T MANE Select	ENSP00000307235.3:p.Arg698Leu
ENST00000652099.1:c.2287G>T
ENST00000652736.1:n.1969G>T
ENST00000303236.7:c.2093G>T	ENSP00000307235.3:p.Arg698Leu
ENST00000415570.1:c.1730G>T	ENSP00000412076.1:p.Arg577Leu
ENST00000419748.5:c.1640G>T	ENSP00000408325.1:p.Arg547Leu
ENST00000470706.1:n.19G>T
ENST00000478003.1:n.659G>T
NM_001313915.1:c.1640G>T	NP_001300844.1:p.Arg547Leu
NM_004836.5:c.2093G>T	NP_004827.4:p.Arg698Leu
NM_004836.6:c.2093G>T	NP_004827.4:p.Arg698Leu
NR_110236.1:n.1527C>A
XM_005264649.3:c.1409G>T	XP_005264706.1:p.Arg470Leu
XR_939749.1:n.2372G>T
XM_017005376.2:c.1409G>T	XP_016860865.1:p.Arg470Leu
NM_004836.7:c.2093G>T MANE Select	NP_004827.4:p.Arg698Leu
NM_001313915.2:c.1640G>T	NP_001300844.1:p.Arg547Leu