Canonical Allele Identifier: CA2660012671

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2727411
• ClinVar RCV Id: RCV003557192
• gnomAD v4: 2-88583410-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583410G>A , CM000664.2:g.88583410G>A	GRCh38
NC_000002.11:g.88882928G>A , CM000664.1:g.88882928G>A	GRCh37
NC_000002.10:g.88664043G>A	NCBI36
NG_016424.1:g.49167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208+20C>T
ENST00000682892.1:c.1310+20C>T	ENSP00000507214.1:n.1310+20C>T
ENST00000682952.1:n.1402+20C>T
ENST00000684455.1:c.976+20C>T
ENST00000684642.1:c.1160+20C>T	ENSP00000507355.1:n.1160+20C>T
ENST00000303236.9:c.1763+20C>T MANE Select	ENSP00000307235.3:n.1763+20C>T
ENST00000652099.1:c.1957+20C>T
ENST00000652736.1:n.1639+20C>T
ENST00000303236.7:c.1763+20C>T	ENSP00000307235.3:n.1763+20C>T
ENST00000415570.1:c.1400+20C>T	ENSP00000412076.1:n.1400+20C>T
ENST00000419748.5:c.1310+20C>T	ENSP00000408325.1:n.1310+20C>T
NM_001313915.1:c.1310+20C>T	NP_001300844.1:n.1310+20C>T
NM_004836.5:c.1763+20C>T	NP_004827.4:n.1763+20C>T
NM_004836.6:c.1763+20C>T	NP_004827.4:n.1763+20C>T
XM_005264649.3:c.1079+20C>T	XP_005264706.1:n.1079+20C>T
XR_939749.1:n.1972+20C>T
XM_017005376.2:c.1079+20C>T	XP_016860865.1:n.1079+20C>T
NM_004836.7:c.1763+20C>T MANE Select	NP_004827.4:n.1763+20C>T
NM_001313915.2:c.1310+20C>T	NP_001300844.1:n.1310+20C>T