Canonical Allele Identifier: CA1268211549

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674641780
• gnomAD v4: 2-88583329-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583329G>A , CM000664.2:g.88583329G>A	GRCh38
NC_000002.11:g.88882847G>A , CM000664.1:g.88882847G>A	GRCh37
NC_000002.10:g.88663962G>A	NCBI36
NG_016424.1:g.49248C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208+101C>T
ENST00000682892.1:c.1310+101C>T	ENSP00000507214.1:n.1310+101C>T
ENST00000682952.1:n.1402+101C>T
ENST00000684455.1:c.976+101C>T
ENST00000684642.1:c.1160+101C>T	ENSP00000507355.1:n.1160+101C>T
ENST00000303236.9:c.1763+101C>T MANE Select	ENSP00000307235.3:n.1763+101C>T
ENST00000652099.1:c.1957+101C>T
ENST00000652736.1:n.1639+101C>T
ENST00000303236.7:c.1763+101C>T	ENSP00000307235.3:n.1763+101C>T
ENST00000415570.1:c.1400+101C>T	ENSP00000412076.1:n.1400+101C>T
ENST00000419748.5:c.1310+101C>T	ENSP00000408325.1:n.1310+101C>T
NM_001313915.1:c.1310+101C>T	NP_001300844.1:n.1310+101C>T
NM_004836.5:c.1763+101C>T	NP_004827.4:n.1763+101C>T
NM_004836.6:c.1763+101C>T	NP_004827.4:n.1763+101C>T
XM_005264649.3:c.1079+101C>T	XP_005264706.1:n.1079+101C>T
XR_939749.1:n.1972+101C>T
XM_017005376.2:c.1079+101C>T	XP_016860865.1:n.1079+101C>T
NM_004836.7:c.1763+101C>T MANE Select	NP_004827.4:n.1763+101C>T
NM_001313915.2:c.1310+101C>T	NP_001300844.1:n.1310+101C>T