Canonical Allele Identifier: CA347595660

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88890101G>A (hg19) ; chr2:g.88590583G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590583G>A , CM000664.2:g.88590583G>A	GRCh38
NC_000002.11:g.88890101G>A , CM000664.1:g.88890101G>A	GRCh37
NC_000002.10:g.88671216G>A	NCBI36
NG_016424.1:g.41994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681996.1:n.2216C>T
ENST00000682276.1:n.480C>T
ENST00000682892.1:c.572C>T	ENSP00000507214.1:p.Ala191Val
ENST00000682952.1:n.664C>T
ENST00000684455.1:c.238C>T
ENST00000684642.1:c.422C>T	ENSP00000507355.1:p.Ala141Val
ENST00000303236.9:c.1025C>T MANE Select	ENSP00000307235.3:p.Ala342Val
ENST00000652099.1:c.1219C>T
ENST00000652736.1:n.901C>T
ENST00000303236.7:c.1025C>T	ENSP00000307235.3:p.Ala342Val
ENST00000415570.1:c.662C>T	ENSP00000412076.1:p.Ala221Val
ENST00000419748.5:c.572C>T	ENSP00000408325.1:p.Ala191Val
NM_001313915.1:c.572C>T	NP_001300844.1:p.Ala191Val
NM_004836.5:c.1025C>T	NP_004827.4:p.Ala342Val
NM_004836.6:c.1025C>T	NP_004827.4:p.Ala342Val
XM_005264649.3:c.341C>T	XP_005264706.1:p.Ala114Val
XR_939749.1:n.1234C>T
XM_017005376.2:c.341C>T	XP_016860865.1:p.Ala114Val
NM_004836.7:c.1025C>T MANE Select	NP_004827.4:p.Ala342Val
NM_001313915.2:c.572C>T	NP_001300844.1:p.Ala191Val