Canonical Allele Identifier: CA347592988

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874936G>A (hg19) ; chr2:g.88575418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575418G>A , CM000664.2:g.88575418G>A	GRCh38
NC_000002.11:g.88874936G>A , CM000664.1:g.88874936G>A	GRCh37
NC_000002.10:g.88656051G>A	NCBI36
NG_016424.1:g.57159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1893C>T
ENST00000682276.1:n.1510C>T
ENST00000682892.1:c.1612C>T	ENSP00000507214.1:p.Pro538Ser
ENST00000682952.1:n.1704C>T
ENST00000684455.1:c.1278C>T
ENST00000684642.1:c.1462C>T	ENSP00000507355.1:p.Pro488Ser
ENST00000684740.1:n.2243C>T
ENST00000303236.9:c.2065C>T MANE Select	ENSP00000307235.3:p.Pro689Ser
ENST00000652099.1:c.2259C>T
ENST00000652736.1:n.1941C>T
ENST00000303236.7:c.2065C>T	ENSP00000307235.3:p.Pro689Ser
ENST00000415570.1:c.1702C>T	ENSP00000412076.1:p.Pro568Ser
ENST00000419748.5:c.1612C>T	ENSP00000408325.1:p.Pro538Ser
ENST00000478003.1:n.631C>T
NM_001313915.1:c.1612C>T	NP_001300844.1:p.Pro538Ser
NM_004836.5:c.2065C>T	NP_004827.4:p.Pro689Ser
NM_004836.6:c.2065C>T	NP_004827.4:p.Pro689Ser
NR_110236.1:n.1555G>A
XM_005264649.3:c.1381C>T	XP_005264706.1:p.Pro461Ser
XR_939749.1:n.2344C>T
XM_017005376.2:c.1381C>T	XP_016860865.1:p.Pro461Ser
NM_004836.7:c.2065C>T MANE Select	NP_004827.4:p.Pro689Ser
NM_001313915.2:c.1612C>T	NP_001300844.1:p.Pro538Ser