Canonical Allele Identifier: CA427445605

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874844G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575326G>A , CM000664.2:g.88575326G>A	GRCh38
NC_000002.11:g.88874844G>A , CM000664.1:g.88874844G>A	GRCh37
NC_000002.10:g.88655959G>A	NCBI36
NG_016424.1:g.57251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1985C>T
ENST00000682276.1:n.1602C>T
ENST00000682892.1:c.1704C>T	ENSP00000507214.1:p.Ser568=
ENST00000682952.1:n.1796C>T
ENST00000684455.1:c.1370C>T
ENST00000684642.1:c.1554C>T	ENSP00000507355.1:p.Ser518=
ENST00000684740.1:n.2335C>T
ENST00000303236.9:c.2157C>T MANE Select	ENSP00000307235.3:p.Ser719=
ENST00000652099.1:c.2351C>T
ENST00000652736.1:n.2033C>T
ENST00000303236.7:c.2157C>T	ENSP00000307235.3:p.Ser719=
ENST00000415570.1:c.1794C>T	ENSP00000412076.1:p.Ser598=
ENST00000419748.5:c.1704C>T	ENSP00000408325.1:p.Ser568=
ENST00000470706.1:n.48+35C>T
NM_001313915.1:c.1704C>T	NP_001300844.1:p.Ser568=
NM_004836.5:c.2157C>T	NP_004827.4:p.Ser719=
NM_004836.6:c.2157C>T	NP_004827.4:p.Ser719=
NR_110236.1:n.1463G>A
XM_005264649.3:c.1473C>T	XP_005264706.1:p.Ser491=
XR_939749.1:n.2436C>T
XM_017005376.2:c.1473C>T	XP_016860865.1:p.Ser491=
NM_004836.7:c.2157C>T MANE Select	NP_004827.4:p.Ser719=
NM_001313915.2:c.1704C>T	NP_001300844.1:p.Ser568=