Canonical Allele Identifier: CA347592407

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575269-G-T
• MyVariant Identifiers: chr2:g.88874787G>T (hg19) ; chr2:g.88575269G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575269G>T , CM000664.2:g.88575269G>T	GRCh38
NC_000002.11:g.88874787G>T , CM000664.1:g.88874787G>T	GRCh37
NC_000002.10:g.88655902G>T	NCBI36
NG_016424.1:g.57308C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2042C>A
ENST00000682276.1:n.1659C>A
ENST00000682892.1:c.1761C>A	ENSP00000507214.1:p.Phe587Leu
ENST00000682952.1:n.1853C>A
ENST00000684455.1:c.1427C>A
ENST00000684642.1:c.1611C>A	ENSP00000507355.1:p.Phe537Leu
ENST00000684740.1:n.2392C>A
ENST00000303236.9:c.2214C>A MANE Select	ENSP00000307235.3:p.Phe738Leu
ENST00000652099.1:c.2408C>A
ENST00000652736.1:n.2090C>A
ENST00000303236.7:c.2214C>A	ENSP00000307235.3:p.Phe738Leu
ENST00000415570.1:c.1851C>A	ENSP00000412076.1:p.Phe617Leu
ENST00000419748.5:c.1761C>A	ENSP00000408325.1:p.Phe587Leu
ENST00000470706.1:n.48+92C>A
NM_001313915.1:c.1761C>A	NP_001300844.1:p.Phe587Leu
NM_004836.5:c.2214C>A	NP_004827.4:p.Phe738Leu
NM_004836.6:c.2214C>A	NP_004827.4:p.Phe738Leu
NR_110236.1:n.1406G>T
XM_005264649.3:c.1530C>A	XP_005264706.1:p.Phe510Leu
XR_939749.1:n.2493C>A
XM_017005376.2:c.1530C>A	XP_016860865.1:p.Phe510Leu
NM_004836.7:c.2214C>A MANE Select	NP_004827.4:p.Phe738Leu
NM_001313915.2:c.1761C>A	NP_001300844.1:p.Phe587Leu