Canonical Allele Identifier: CA427173871

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88882950T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583432T>G , CM000664.2:g.88583432T>G	GRCh38
NC_000002.11:g.88882950T>G , CM000664.1:g.88882950T>G	GRCh37
NC_000002.10:g.88664065T>G	NCBI36
NG_016424.1:g.49145A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1206A>C
ENST00000682892.1:c.1308A>C	ENSP00000507214.1:p.Ser436=
ENST00000682952.1:n.1400A>C
ENST00000684455.1:c.974A>C
ENST00000684642.1:c.1158A>C	ENSP00000507355.1:p.Ser386=
ENST00000303236.9:c.1761A>C MANE Select	ENSP00000307235.3:p.Ser587=
ENST00000652099.1:c.1955A>C
ENST00000652736.1:n.1637A>C
ENST00000303236.7:c.1761A>C	ENSP00000307235.3:p.Ser587=
ENST00000415570.1:c.1398A>C	ENSP00000412076.1:p.Ser466=
ENST00000419748.5:c.1308A>C	ENSP00000408325.1:p.Ser436=
NM_001313915.1:c.1308A>C	NP_001300844.1:p.Ser436=
NM_004836.5:c.1761A>C	NP_004827.4:p.Ser587=
NM_004836.6:c.1761A>C	NP_004827.4:p.Ser587=
XM_005264649.3:c.1077A>C	XP_005264706.1:p.Ser359=
XR_939749.1:n.1970A>C
XM_017005376.2:c.1077A>C	XP_016860865.1:p.Ser359=
NM_004836.7:c.1761A>C MANE Select	NP_004827.4:p.Ser587=
NM_001313915.2:c.1308A>C	NP_001300844.1:p.Ser436=