Canonical Allele Identifier: CA347591235

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874528T>A (hg19) ; chr2:g.88575010T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575010T>A , CM000664.2:g.88575010T>A	GRCh38
NC_000002.11:g.88874528T>A , CM000664.1:g.88874528T>A	GRCh37
NC_000002.10:g.88655643T>A	NCBI36
NG_016424.1:g.57567A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2301A>T
ENST00000682103.1:c.14A>T
ENST00000682276.1:n.1918A>T
ENST00000682892.1:c.2020A>T	ENSP00000507214.1:p.Asn674Tyr
ENST00000682952.1:n.2112A>T
ENST00000684455.1:c.1686A>T
ENST00000684642.1:c.1870A>T	ENSP00000507355.1:p.Asn624Tyr
ENST00000684740.1:n.2651A>T
ENST00000303236.9:c.2473A>T MANE Select	ENSP00000307235.3:p.Asn825Tyr
ENST00000652099.1:c.2667A>T
ENST00000652736.1:n.2349A>T
ENST00000303236.7:c.2473A>T	ENSP00000307235.3:p.Asn825Tyr
ENST00000415570.1:c.2110A>T	ENSP00000412076.1:p.Asn704Tyr
ENST00000419748.5:c.2020A>T	ENSP00000408325.1:p.Asn674Tyr
ENST00000470706.1:n.116A>T
NM_001313915.1:c.2020A>T	NP_001300844.1:p.Asn674Tyr
NM_004836.5:c.2473A>T	NP_004827.4:p.Asn825Tyr
NM_004836.6:c.2473A>T	NP_004827.4:p.Asn825Tyr
NR_110236.1:n.1147T>A
XM_005264649.3:c.1789A>T	XP_005264706.1:p.Asn597Tyr
XM_017005376.2:c.1789A>T	XP_016860865.1:p.Asn597Tyr
NM_004836.7:c.2473A>T MANE Select	NP_004827.4:p.Asn825Tyr
NM_001313915.2:c.2020A>T	NP_001300844.1:p.Asn674Tyr