Canonical Allele Identifier: CA427174317

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88890106T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590588T>G , CM000664.2:g.88590588T>G	GRCh38
NC_000002.11:g.88890106T>G , CM000664.1:g.88890106T>G	GRCh37
NC_000002.10:g.88671221T>G	NCBI36
NG_016424.1:g.41989A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681996.1:n.2211A>C
ENST00000682276.1:n.475A>C
ENST00000682892.1:c.567A>C	ENSP00000507214.1:p.Ala189=
ENST00000682952.1:n.659A>C
ENST00000684455.1:c.233A>C
ENST00000684642.1:c.417A>C	ENSP00000507355.1:p.Ala139=
ENST00000303236.9:c.1020A>C MANE Select	ENSP00000307235.3:p.Ala340=
ENST00000652099.1:c.1214A>C
ENST00000652736.1:n.896A>C
ENST00000303236.7:c.1020A>C	ENSP00000307235.3:p.Ala340=
ENST00000415570.1:c.657A>C	ENSP00000412076.1:p.Ala219=
ENST00000419748.5:c.567A>C	ENSP00000408325.1:p.Ala189=
NM_001313915.1:c.567A>C	NP_001300844.1:p.Ala189=
NM_004836.5:c.1020A>C	NP_004827.4:p.Ala340=
NM_004836.6:c.1020A>C	NP_004827.4:p.Ala340=
XM_005264649.3:c.336A>C	XP_005264706.1:p.Ala112=
XR_939749.1:n.1229A>C
XM_017005376.2:c.336A>C	XP_016860865.1:p.Ala112=
NM_004836.7:c.1020A>C MANE Select	NP_004827.4:p.Ala340=
NM_001313915.2:c.567A>C	NP_001300844.1:p.Ala189=