Canonical Allele Identifier: CA347593048

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874963T>C (hg19) ; chr2:g.88575445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575445T>C , CM000664.2:g.88575445T>C	GRCh38
NC_000002.11:g.88874963T>C , CM000664.1:g.88874963T>C	GRCh37
NC_000002.10:g.88656078T>C	NCBI36
NG_016424.1:g.57132A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1866A>G
ENST00000682276.1:n.1483A>G
ENST00000682892.1:c.1585A>G	ENSP00000507214.1:p.Thr529Ala
ENST00000682952.1:n.1677A>G
ENST00000684455.1:c.1251A>G
ENST00000684642.1:c.1435A>G	ENSP00000507355.1:p.Thr479Ala
ENST00000684740.1:n.2216A>G
ENST00000303236.9:c.2038A>G MANE Select	ENSP00000307235.3:p.Thr680Ala
ENST00000652099.1:c.2232A>G
ENST00000652736.1:n.1914A>G
ENST00000303236.7:c.2038A>G	ENSP00000307235.3:p.Thr680Ala
ENST00000415570.1:c.1675A>G	ENSP00000412076.1:p.Thr559Ala
ENST00000419748.5:c.1585A>G	ENSP00000408325.1:p.Thr529Ala
ENST00000478003.1:n.604A>G
NM_001313915.1:c.1585A>G	NP_001300844.1:p.Thr529Ala
NM_004836.5:c.2038A>G	NP_004827.4:p.Thr680Ala
NM_004836.6:c.2038A>G	NP_004827.4:p.Thr680Ala
NR_110236.1:n.1582T>C
XM_005264649.3:c.1354A>G	XP_005264706.1:p.Thr452Ala
XR_939749.1:n.2317A>G
XM_017005376.2:c.1354A>G	XP_016860865.1:p.Thr452Ala
NM_004836.7:c.2038A>G MANE Select	NP_004827.4:p.Thr680Ala
NM_001313915.2:c.1585A>G	NP_001300844.1:p.Thr529Ala