Canonical Allele Identifier: CA347593047

Gene: EIF2AK3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1866A>T
ENST00000682276.1:n.1483A>T
ENST00000682892.1:c.1585A>T	ENSP00000507214.1:p.Thr529Ser
ENST00000682952.1:n.1677A>T
ENST00000684455.1:c.1251A>T
ENST00000684642.1:c.1435A>T	ENSP00000507355.1:p.Thr479Ser
ENST00000684740.1:n.2216A>T
ENST00000303236.9:c.2038A>T MANE Select	ENSP00000307235.3:p.Thr680Ser
ENST00000652099.1:c.2232A>T
ENST00000652736.1:n.1914A>T
ENST00000303236.7:c.2038A>T	ENSP00000307235.3:p.Thr680Ser
ENST00000415570.1:c.1675A>T	ENSP00000412076.1:p.Thr559Ser
ENST00000419748.5:c.1585A>T	ENSP00000408325.1:p.Thr529Ser
ENST00000478003.1:n.604A>T
NM_001313915.1:c.1585A>T	NP_001300844.1:p.Thr529Ser
NM_004836.5:c.2038A>T	NP_004827.4:p.Thr680Ser
NM_004836.6:c.2038A>T	NP_004827.4:p.Thr680Ser
NR_110236.1:n.1582T>A
XM_005264649.3:c.1354A>T	XP_005264706.1:p.Thr452Ser
XR_939749.1:n.2317A>T
XM_017005376.2:c.1354A>T	XP_016860865.1:p.Thr452Ser
NM_004836.7:c.2038A>T MANE Select	NP_004827.4:p.Thr680Ser
NM_001313915.2:c.1585A>T	NP_001300844.1:p.Thr529Ser