Canonical Allele Identifier: CA2660012633

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88583351-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583351C>T , CM000664.2:g.88583351C>T	GRCh38
NC_000002.11:g.88882869C>T , CM000664.1:g.88882869C>T	GRCh37
NC_000002.10:g.88663984C>T	NCBI36
NG_016424.1:g.49226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208+79G>A
ENST00000682892.1:c.1310+79G>A	ENSP00000507214.1:n.1310+79G>A
ENST00000682952.1:n.1402+79G>A
ENST00000684455.1:c.976+79G>A
ENST00000684642.1:c.1160+79G>A	ENSP00000507355.1:n.1160+79G>A
ENST00000303236.9:c.1763+79G>A MANE Select	ENSP00000307235.3:n.1763+79G>A
ENST00000652099.1:c.1957+79G>A
ENST00000652736.1:n.1639+79G>A
ENST00000303236.7:c.1763+79G>A	ENSP00000307235.3:n.1763+79G>A
ENST00000415570.1:c.1400+79G>A	ENSP00000412076.1:n.1400+79G>A
ENST00000419748.5:c.1310+79G>A	ENSP00000408325.1:n.1310+79G>A
NM_001313915.1:c.1310+79G>A	NP_001300844.1:n.1310+79G>A
NM_004836.5:c.1763+79G>A	NP_004827.4:n.1763+79G>A
NM_004836.6:c.1763+79G>A	NP_004827.4:n.1763+79G>A
XM_005264649.3:c.1079+79G>A	XP_005264706.1:n.1079+79G>A
XR_939749.1:n.1972+79G>A
XM_017005376.2:c.1079+79G>A	XP_016860865.1:n.1079+79G>A
NM_004836.7:c.1763+79G>A MANE Select	NP_004827.4:n.1763+79G>A
NM_001313915.2:c.1310+79G>A	NP_001300844.1:n.1310+79G>A