Canonical Allele Identifier: CA347592634

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874836A>T (hg19) ; chr2:g.88575318A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575318A>T , CM000664.2:g.88575318A>T	GRCh38
NC_000002.11:g.88874836A>T , CM000664.1:g.88874836A>T	GRCh37
NC_000002.10:g.88655951A>T	NCBI36
NG_016424.1:g.57259T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1993T>A
ENST00000682276.1:n.1610T>A
ENST00000682892.1:c.1712T>A	ENSP00000507214.1:p.Phe571Tyr
ENST00000682952.1:n.1804T>A
ENST00000684455.1:c.1378T>A
ENST00000684642.1:c.1562T>A	ENSP00000507355.1:p.Phe521Tyr
ENST00000684740.1:n.2343T>A
ENST00000303236.9:c.2165T>A MANE Select	ENSP00000307235.3:p.Phe722Tyr
ENST00000652099.1:c.2359T>A
ENST00000652736.1:n.2041T>A
ENST00000303236.7:c.2165T>A	ENSP00000307235.3:p.Phe722Tyr
ENST00000415570.1:c.1802T>A	ENSP00000412076.1:p.Phe601Tyr
ENST00000419748.5:c.1712T>A	ENSP00000408325.1:p.Phe571Tyr
ENST00000470706.1:n.48+43T>A
NM_001313915.1:c.1712T>A	NP_001300844.1:p.Phe571Tyr
NM_004836.5:c.2165T>A	NP_004827.4:p.Phe722Tyr
NM_004836.6:c.2165T>A	NP_004827.4:p.Phe722Tyr
NR_110236.1:n.1455A>T
XM_005264649.3:c.1481T>A	XP_005264706.1:p.Phe494Tyr
XR_939749.1:n.2444T>A
XM_017005376.2:c.1481T>A	XP_016860865.1:p.Phe494Tyr
NM_004836.7:c.2165T>A MANE Select	NP_004827.4:p.Phe722Tyr
NM_001313915.2:c.1712T>A	NP_001300844.1:p.Phe571Tyr