Canonical Allele Identifier: CA427173874

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88882956A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583438A>G , CM000664.2:g.88583438A>G	GRCh38
NC_000002.11:g.88882956A>G , CM000664.1:g.88882956A>G	GRCh37
NC_000002.10:g.88664071A>G	NCBI36
NG_016424.1:g.49139T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1200T>C
ENST00000682892.1:c.1302T>C	ENSP00000507214.1:p.Tyr434=
ENST00000682952.1:n.1394T>C
ENST00000684455.1:c.968T>C
ENST00000684642.1:c.1152T>C	ENSP00000507355.1:p.Tyr384=
ENST00000303236.9:c.1755T>C MANE Select	ENSP00000307235.3:p.Tyr585=
ENST00000652099.1:c.1949T>C
ENST00000652736.1:n.1631T>C
ENST00000303236.7:c.1755T>C	ENSP00000307235.3:p.Tyr585=
ENST00000415570.1:c.1392T>C	ENSP00000412076.1:p.Tyr464=
ENST00000419748.5:c.1302T>C	ENSP00000408325.1:p.Tyr434=
NM_001313915.1:c.1302T>C	NP_001300844.1:p.Tyr434=
NM_004836.5:c.1755T>C	NP_004827.4:p.Tyr585=
NM_004836.6:c.1755T>C	NP_004827.4:p.Tyr585=
XM_005264649.3:c.1071T>C	XP_005264706.1:p.Tyr357=
XR_939749.1:n.1964T>C
XM_017005376.2:c.1071T>C	XP_016860865.1:p.Tyr357=
NM_004836.7:c.1755T>C MANE Select	NP_004827.4:p.Tyr585=
NM_001313915.2:c.1302T>C	NP_001300844.1:p.Tyr434=