Canonical Allele Identifier: CA347592950

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874918C>A (hg19) ; chr2:g.88575400C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575400C>A , CM000664.2:g.88575400C>A	GRCh38
NC_000002.11:g.88874918C>A , CM000664.1:g.88874918C>A	GRCh37
NC_000002.10:g.88656033C>A	NCBI36
NG_016424.1:g.57177G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1911G>T
ENST00000682276.1:n.1528G>T
ENST00000682892.1:c.1630G>T	ENSP00000507214.1:p.Val544Phe
ENST00000682952.1:n.1722G>T
ENST00000684455.1:c.1296G>T
ENST00000684642.1:c.1480G>T	ENSP00000507355.1:p.Val494Phe
ENST00000684740.1:n.2261G>T
ENST00000303236.9:c.2083G>T MANE Select	ENSP00000307235.3:p.Val695Phe
ENST00000652099.1:c.2277G>T
ENST00000652736.1:n.1959G>T
ENST00000303236.7:c.2083G>T	ENSP00000307235.3:p.Val695Phe
ENST00000415570.1:c.1720G>T	ENSP00000412076.1:p.Val574Phe
ENST00000419748.5:c.1630G>T	ENSP00000408325.1:p.Val544Phe
ENST00000470706.1:n.9G>T
ENST00000478003.1:n.649G>T
NM_001313915.1:c.1630G>T	NP_001300844.1:p.Val544Phe
NM_004836.5:c.2083G>T	NP_004827.4:p.Val695Phe
NM_004836.6:c.2083G>T	NP_004827.4:p.Val695Phe
NR_110236.1:n.1537C>A
XM_005264649.3:c.1399G>T	XP_005264706.1:p.Val467Phe
XR_939749.1:n.2362G>T
XM_017005376.2:c.1399G>T	XP_016860865.1:p.Val467Phe
NM_004836.7:c.2083G>T MANE Select	NP_004827.4:p.Val695Phe
NM_001313915.2:c.1630G>T	NP_001300844.1:p.Val544Phe