Canonical Allele Identifier: CA347587140

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88570969G>A , CM000664.2:g.88570969G>A	GRCh38
NC_000002.11:g.88870487G>A , CM000664.1:g.88870487G>A	GRCh37
NC_000002.10:g.88651602G>A	NCBI36
NG_016424.1:g.61608C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.2890C>T MANE Select	NP_004827.4:p.Gln964Ter
ENST00000303236.9:c.2890C>T MANE Select	ENSP00000307235.3:p.Gln964Ter
NM_001313915.1:c.2437C>T	NP_001300844.1:p.Gln813Ter
NM_001313915.2:c.2437C>T	NP_001300844.1:p.Gln813Ter
NM_004836.5:c.2890C>T	NP_004827.4:p.Gln964Ter
NM_004836.6:c.2890C>T	NP_004827.4:p.Gln964Ter
NR_110236.1:n.651-3545G>A
ENST00000303236.7:c.2890C>T	ENSP00000307235.3:p.Gln964Ter
ENST00000415570.1:c.2527C>T	ENSP00000412076.1:p.Gln843Ter
ENST00000419748.5:c.2437C>T	ENSP00000408325.1:p.Gln813Ter
ENST00000470706.1:n.533C>T
ENST00000478003.2:n.2718C>T
ENST00000652099.1:c.3084C>T
ENST00000652736.1:n.2766C>T
ENST00000682103.1:c.431C>T
ENST00000682276.1:n.2335C>T
ENST00000682468.1:n.428C>T
ENST00000682603.1:c.122C>T
ENST00000682892.1:c.2437C>T	ENSP00000507214.1:p.Gln813Ter
ENST00000682952.1:n.2529C>T
ENST00000684455.1:c.2103C>T
ENST00000684642.1:c.2214+3697C>T	ENSP00000507355.1:n.2214+3697C>T
ENST00000684740.1:n.3068C>T
XM_005264649.3:c.2206C>T	XP_005264706.1:p.Gln736Ter
XM_017005376.2:c.2206C>T	XP_016860865.1:p.Gln736Ter