Canonical Allele Identifier: CA347595648

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88890095A>T (hg19) ; chr2:g.88590577A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590577A>T , CM000664.2:g.88590577A>T	GRCh38
NC_000002.11:g.88890095A>T , CM000664.1:g.88890095A>T	GRCh37
NC_000002.10:g.88671210A>T	NCBI36
NG_016424.1:g.42000T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681996.1:n.2222T>A
ENST00000682276.1:n.486T>A
ENST00000682892.1:c.578T>A	ENSP00000507214.1:p.Leu193Ter
ENST00000682952.1:n.670T>A
ENST00000684455.1:c.244T>A
ENST00000684642.1:c.428T>A	ENSP00000507355.1:p.Leu143Ter
ENST00000303236.9:c.1031T>A MANE Select	ENSP00000307235.3:p.Leu344Ter
ENST00000652099.1:c.1225T>A
ENST00000652736.1:n.907T>A
ENST00000303236.7:c.1031T>A	ENSP00000307235.3:p.Leu344Ter
ENST00000415570.1:c.668T>A	ENSP00000412076.1:p.Leu223Ter
ENST00000419748.5:c.578T>A	ENSP00000408325.1:p.Leu193Ter
NM_001313915.1:c.578T>A	NP_001300844.1:p.Leu193Ter
NM_004836.5:c.1031T>A	NP_004827.4:p.Leu344Ter
NM_004836.6:c.1031T>A	NP_004827.4:p.Leu344Ter
XM_005264649.3:c.347T>A	XP_005264706.1:p.Leu116Ter
XR_939749.1:n.1240T>A
XM_017005376.2:c.347T>A	XP_016860865.1:p.Leu116Ter
NM_004836.7:c.1031T>A MANE Select	NP_004827.4:p.Leu344Ter
NM_001313915.2:c.578T>A	NP_001300844.1:p.Leu193Ter