Canonical Allele Identifier: CA534630098

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1345857138
• gnomAD v2: 2-88874611-C-CAACCACTTTAAG
• MyVariant Identifiers: chr2:g.88874611_88874612insAACCACTTTAAG (hg19) ; chr2:g.88575093_88575094insAACCACTTTAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575093_88575094insAACCACTTTAAG , CM000664.2:g.88575093_88575094insAACCACTTTAAG	GRCh38
NC_000002.11:g.88874611_88874612insAACCACTTTAAG , CM000664.1:g.88874611_88874612insAACCACTTTAAG	GRCh37
NC_000002.10:g.88655726_88655727insAACCACTTTAAG	NCBI36
NG_016424.1:g.57483_57484insCTTAAAGTGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2217_2218insCTTAAAGTGGTT
ENST00000682276.1:n.1834_1835insCTTAAAGTGGTT
ENST00000682892.1:c.1936_1937insCTTAAAGTGGTT	ENSP00000507214.1:p.Arg646ThrfsTer2
ENST00000682952.1:n.2028_2029insCTTAAAGTGGTT
ENST00000684455.1:c.1602_1603insCTTAAAGTGGTT
ENST00000684642.1:c.1786_1787insCTTAAAGTGGTT	ENSP00000507355.1:p.Arg596ThrfsTer2
ENST00000684740.1:n.2567_2568insCTTAAAGTGGTT
ENST00000303236.9:c.2389_2390insCTTAAAGTGGTT MANE Select	ENSP00000307235.3:p.Arg797ThrfsTer2
ENST00000652099.1:c.2583_2584insCTTAAAGTGGTT
ENST00000652736.1:n.2265_2266insCTTAAAGTGGTT
ENST00000303236.7:c.2389_2390insCTTAAAGTGGTT	ENSP00000307235.3:p.Arg797ThrfsTer2
ENST00000415570.1:c.2026_2027insCTTAAAGTGGTT	ENSP00000412076.1:p.Arg676ThrfsTer2
ENST00000419748.5:c.1936_1937insCTTAAAGTGGTT	ENSP00000408325.1:p.Arg646ThrfsTer2
ENST00000470706.1:n.49-17_49-16insCTTAAAGTGGTT
NM_001313915.1:c.1936_1937insCTTAAAGTGGTT	NP_001300844.1:p.Arg646ThrfsTer2
NM_004836.5:c.2389_2390insCTTAAAGTGGTT	NP_004827.4:p.Arg797ThrfsTer2
NM_004836.6:c.2389_2390insCTTAAAGTGGTT	NP_004827.4:p.Arg797ThrfsTer2
NR_110236.1:n.1230_1231insAACCACTTTAAG
XM_005264649.3:c.1705_1706insCTTAAAGTGGTT	XP_005264706.1:p.Arg569ThrfsTer2
XM_017005376.2:c.1705_1706insCTTAAAGTGGTT	XP_016860865.1:p.Arg569ThrfsTer2
NM_004836.7:c.2389_2390insCTTAAAGTGGTT MANE Select	NP_004827.4:p.Arg797ThrfsTer2
NM_001313915.2:c.1936_1937insCTTAAAGTGGTT	NP_001300844.1:p.Arg646ThrfsTer2