Canonical Allele Identifier: CA1754613

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2578862
• ClinVar RCV Id: RCV003327038
• dbSNP Id: rs754973185
• ExAC: 2:88882949 G / A
• gnomAD v2: 2-88882949-G-A
• gnomAD v4: 2-88583431-G-A
• COSMIC: COSM3583915 ; COSM3583916
• MyVariant Identifiers: chr2:g.88882949G>A (hg19) ; chr2:g.88583431G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583431G>A , CM000664.2:g.88583431G>A	GRCh38
NC_000002.11:g.88882949G>A , CM000664.1:g.88882949G>A	GRCh37
NC_000002.10:g.88664064G>A	NCBI36
NG_016424.1:g.49146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1207C>T
ENST00000682892.1:c.1309C>T	ENSP00000507214.1:p.Arg437Ter
ENST00000682952.1:n.1401C>T
ENST00000684455.1:c.975C>T
ENST00000684642.1:c.1159C>T	ENSP00000507355.1:p.Arg387Ter
ENST00000303236.9:c.1762C>T MANE Select	ENSP00000307235.3:p.Arg588Ter
ENST00000652099.1:c.1956C>T
ENST00000652736.1:n.1638C>T
ENST00000303236.7:c.1762C>T	ENSP00000307235.3:p.Arg588Ter
ENST00000415570.1:c.1399C>T	ENSP00000412076.1:p.Arg467Ter
ENST00000419748.5:c.1309C>T	ENSP00000408325.1:p.Arg437Ter
NM_001313915.1:c.1309C>T	NP_001300844.1:p.Arg437Ter
NM_004836.5:c.1762C>T	NP_004827.4:p.Arg588Ter
NM_004836.6:c.1762C>T	NP_004827.4:p.Arg588Ter
XM_005264649.3:c.1078C>T	XP_005264706.1:p.Arg360Ter
XR_939749.1:n.1971C>T
XM_017005376.2:c.1078C>T	XP_016860865.1:p.Arg360Ter
NM_004836.7:c.1762C>T MANE Select	NP_004827.4:p.Arg588Ter
NM_001313915.2:c.1309C>T	NP_001300844.1:p.Arg437Ter