Canonical Allele Identifier: CA347595650

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88890096A>T (hg19) ; chr2:g.88590578A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590578A>T , CM000664.2:g.88590578A>T	GRCh38
NC_000002.11:g.88890096A>T , CM000664.1:g.88890096A>T	GRCh37
NC_000002.10:g.88671211A>T	NCBI36
NG_016424.1:g.41999T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681996.1:n.2221T>A
ENST00000682276.1:n.485T>A
ENST00000682892.1:c.577T>A	ENSP00000507214.1:p.Leu193Ile
ENST00000682952.1:n.669T>A
ENST00000684455.1:c.243T>A
ENST00000684642.1:c.427T>A	ENSP00000507355.1:p.Leu143Ile
ENST00000303236.9:c.1030T>A MANE Select	ENSP00000307235.3:p.Leu344Ile
ENST00000652099.1:c.1224T>A
ENST00000652736.1:n.906T>A
ENST00000303236.7:c.1030T>A	ENSP00000307235.3:p.Leu344Ile
ENST00000415570.1:c.667T>A	ENSP00000412076.1:p.Leu223Ile
ENST00000419748.5:c.577T>A	ENSP00000408325.1:p.Leu193Ile
NM_001313915.1:c.577T>A	NP_001300844.1:p.Leu193Ile
NM_004836.5:c.1030T>A	NP_004827.4:p.Leu344Ile
NM_004836.6:c.1030T>A	NP_004827.4:p.Leu344Ile
XM_005264649.3:c.346T>A	XP_005264706.1:p.Leu116Ile
XR_939749.1:n.1239T>A
XM_017005376.2:c.346T>A	XP_016860865.1:p.Leu116Ile
NM_004836.7:c.1030T>A MANE Select	NP_004827.4:p.Leu344Ile
NM_001313915.2:c.577T>A	NP_001300844.1:p.Leu193Ile