Canonical Allele Identifier: CA347593954

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88583436-A-T
• MyVariant Identifiers: chr2:g.88882954A>T (hg19) ; chr2:g.88583436A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583436A>T , CM000664.2:g.88583436A>T	GRCh38
NC_000002.11:g.88882954A>T , CM000664.1:g.88882954A>T	GRCh37
NC_000002.10:g.88664069A>T	NCBI36
NG_016424.1:g.49141T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1202T>A
ENST00000682892.1:c.1304T>A	ENSP00000507214.1:p.Ile435Lys
ENST00000682952.1:n.1396T>A
ENST00000684455.1:c.970T>A
ENST00000684642.1:c.1154T>A	ENSP00000507355.1:p.Ile385Lys
ENST00000303236.9:c.1757T>A MANE Select	ENSP00000307235.3:p.Ile586Lys
ENST00000652099.1:c.1951T>A
ENST00000652736.1:n.1633T>A
ENST00000303236.7:c.1757T>A	ENSP00000307235.3:p.Ile586Lys
ENST00000415570.1:c.1394T>A	ENSP00000412076.1:p.Ile465Lys
ENST00000419748.5:c.1304T>A	ENSP00000408325.1:p.Ile435Lys
NM_001313915.1:c.1304T>A	NP_001300844.1:p.Ile435Lys
NM_004836.5:c.1757T>A	NP_004827.4:p.Ile586Lys
NM_004836.6:c.1757T>A	NP_004827.4:p.Ile586Lys
XM_005264649.3:c.1073T>A	XP_005264706.1:p.Ile358Lys
XR_939749.1:n.1966T>A
XM_017005376.2:c.1073T>A	XP_016860865.1:p.Ile358Lys
NM_004836.7:c.1757T>A MANE Select	NP_004827.4:p.Ile586Lys
NM_001313915.2:c.1304T>A	NP_001300844.1:p.Ile435Lys