Canonical Allele Identifier: CA347591491

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874584A>G (hg19) ; chr2:g.88575066A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575066A>G , CM000664.2:g.88575066A>G	GRCh38
NC_000002.11:g.88874584A>G , CM000664.1:g.88874584A>G	GRCh37
NC_000002.10:g.88655699A>G	NCBI36
NG_016424.1:g.57511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2245T>C
ENST00000682276.1:n.1862T>C
ENST00000682892.1:c.1964T>C	ENSP00000507214.1:p.Ile655Thr
ENST00000682952.1:n.2056T>C
ENST00000684455.1:c.1630T>C
ENST00000684642.1:c.1814T>C	ENSP00000507355.1:p.Ile605Thr
ENST00000684740.1:n.2595T>C
ENST00000303236.9:c.2417T>C MANE Select	ENSP00000307235.3:p.Ile806Thr
ENST00000652099.1:c.2611T>C
ENST00000652736.1:n.2293T>C
ENST00000303236.7:c.2417T>C	ENSP00000307235.3:p.Ile806Thr
ENST00000415570.1:c.2054T>C	ENSP00000412076.1:p.Ile685Thr
ENST00000419748.5:c.1964T>C	ENSP00000408325.1:p.Ile655Thr
ENST00000470706.1:n.60T>C
NM_001313915.1:c.1964T>C	NP_001300844.1:p.Ile655Thr
NM_004836.5:c.2417T>C	NP_004827.4:p.Ile806Thr
NM_004836.6:c.2417T>C	NP_004827.4:p.Ile806Thr
NR_110236.1:n.1203A>G
XM_005264649.3:c.1733T>C	XP_005264706.1:p.Ile578Thr
XM_017005376.2:c.1733T>C	XP_016860865.1:p.Ile578Thr
NM_004836.7:c.2417T>C MANE Select	NP_004827.4:p.Ile806Thr
NM_001313915.2:c.1964T>C	NP_001300844.1:p.Ile655Thr