Canonical Allele Identifier: CA347593046

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874962G>C (hg19) ; chr2:g.88575444G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575444G>C , CM000664.2:g.88575444G>C	GRCh38
NC_000002.11:g.88874962G>C , CM000664.1:g.88874962G>C	GRCh37
NC_000002.10:g.88656077G>C	NCBI36
NG_016424.1:g.57133C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1867C>G
ENST00000682276.1:n.1484C>G
ENST00000682892.1:c.1586C>G	ENSP00000507214.1:p.Thr529Arg
ENST00000682952.1:n.1678C>G
ENST00000684455.1:c.1252C>G
ENST00000684642.1:c.1436C>G	ENSP00000507355.1:p.Thr479Arg
ENST00000684740.1:n.2217C>G
ENST00000303236.9:c.2039C>G MANE Select	ENSP00000307235.3:p.Thr680Arg
ENST00000652099.1:c.2233C>G
ENST00000652736.1:n.1915C>G
ENST00000303236.7:c.2039C>G	ENSP00000307235.3:p.Thr680Arg
ENST00000415570.1:c.1676C>G	ENSP00000412076.1:p.Thr559Arg
ENST00000419748.5:c.1586C>G	ENSP00000408325.1:p.Thr529Arg
ENST00000478003.1:n.605C>G
NM_001313915.1:c.1586C>G	NP_001300844.1:p.Thr529Arg
NM_004836.5:c.2039C>G	NP_004827.4:p.Thr680Arg
NM_004836.6:c.2039C>G	NP_004827.4:p.Thr680Arg
NR_110236.1:n.1581G>C
XM_005264649.3:c.1355C>G	XP_005264706.1:p.Thr452Arg
XR_939749.1:n.2318C>G
XM_017005376.2:c.1355C>G	XP_016860865.1:p.Thr452Arg
NM_004836.7:c.2039C>G MANE Select	NP_004827.4:p.Thr680Arg
NM_001313915.2:c.1586C>G	NP_001300844.1:p.Thr529Arg