Canonical Allele Identifier: CA347595659

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674861488
• MyVariant Identifiers: chr2:g.88890099A>G (hg19) ; chr2:g.88590581A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590581A>G , CM000664.2:g.88590581A>G	GRCh38
NC_000002.11:g.88890099A>G , CM000664.1:g.88890099A>G	GRCh37
NC_000002.10:g.88671214A>G	NCBI36
NG_016424.1:g.41996T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681996.1:n.2218T>C
ENST00000682276.1:n.482T>C
ENST00000682892.1:c.574T>C	ENSP00000507214.1:p.Trp192Arg
ENST00000682952.1:n.666T>C
ENST00000684455.1:c.240T>C
ENST00000684642.1:c.424T>C	ENSP00000507355.1:p.Trp142Arg
ENST00000303236.9:c.1027T>C MANE Select	ENSP00000307235.3:p.Trp343Arg
ENST00000652099.1:c.1221T>C
ENST00000652736.1:n.903T>C
ENST00000303236.7:c.1027T>C	ENSP00000307235.3:p.Trp343Arg
ENST00000415570.1:c.664T>C	ENSP00000412076.1:p.Trp222Arg
ENST00000419748.5:c.574T>C	ENSP00000408325.1:p.Trp192Arg
NM_001313915.1:c.574T>C	NP_001300844.1:p.Trp192Arg
NM_004836.5:c.1027T>C	NP_004827.4:p.Trp343Arg
NM_004836.6:c.1027T>C	NP_004827.4:p.Trp343Arg
XM_005264649.3:c.343T>C	XP_005264706.1:p.Trp115Arg
XR_939749.1:n.1236T>C
XM_017005376.2:c.343T>C	XP_016860865.1:p.Trp115Arg
NM_004836.7:c.1027T>C MANE Select	NP_004827.4:p.Trp343Arg
NM_001313915.2:c.574T>C	NP_001300844.1:p.Trp192Arg