Canonical Allele Identifier: CA347595667

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88890104G>T (hg19) ; chr2:g.88590586G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590586G>T , CM000664.2:g.88590586G>T	GRCh38
NC_000002.11:g.88890104G>T , CM000664.1:g.88890104G>T	GRCh37
NC_000002.10:g.88671219G>T	NCBI36
NG_016424.1:g.41991C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681996.1:n.2213C>A
ENST00000682276.1:n.477C>A
ENST00000682892.1:c.569C>A	ENSP00000507214.1:p.Ser190Tyr
ENST00000682952.1:n.661C>A
ENST00000684455.1:c.235C>A
ENST00000684642.1:c.419C>A	ENSP00000507355.1:p.Ser140Tyr
ENST00000303236.9:c.1022C>A MANE Select	ENSP00000307235.3:p.Ser341Tyr
ENST00000652099.1:c.1216C>A
ENST00000652736.1:n.898C>A
ENST00000303236.7:c.1022C>A	ENSP00000307235.3:p.Ser341Tyr
ENST00000415570.1:c.659C>A	ENSP00000412076.1:p.Ser220Tyr
ENST00000419748.5:c.569C>A	ENSP00000408325.1:p.Ser190Tyr
NM_001313915.1:c.569C>A	NP_001300844.1:p.Ser190Tyr
NM_004836.5:c.1022C>A	NP_004827.4:p.Ser341Tyr
NM_004836.6:c.1022C>A	NP_004827.4:p.Ser341Tyr
XM_005264649.3:c.338C>A	XP_005264706.1:p.Ser113Tyr
XR_939749.1:n.1231C>A
XM_017005376.2:c.338C>A	XP_016860865.1:p.Ser113Tyr
NM_004836.7:c.1022C>A MANE Select	NP_004827.4:p.Ser341Tyr
NM_001313915.2:c.569C>A	NP_001300844.1:p.Ser190Tyr