Canonical Allele Identifier: CA347593957

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88882956A>C (hg19) ; chr2:g.88583438A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1200T>G
ENST00000682892.1:c.1302T>G	ENSP00000507214.1:p.Tyr434Ter
ENST00000682952.1:n.1394T>G
ENST00000684455.1:c.968T>G
ENST00000684642.1:c.1152T>G	ENSP00000507355.1:p.Tyr384Ter
ENST00000303236.9:c.1755T>G MANE Select	ENSP00000307235.3:p.Tyr585Ter
ENST00000652099.1:c.1949T>G
ENST00000652736.1:n.1631T>G
ENST00000303236.7:c.1755T>G	ENSP00000307235.3:p.Tyr585Ter
ENST00000415570.1:c.1392T>G	ENSP00000412076.1:p.Tyr464Ter
ENST00000419748.5:c.1302T>G	ENSP00000408325.1:p.Tyr434Ter
NM_001313915.1:c.1302T>G	NP_001300844.1:p.Tyr434Ter
NM_004836.5:c.1755T>G	NP_004827.4:p.Tyr585Ter
NM_004836.6:c.1755T>G	NP_004827.4:p.Tyr585Ter
XM_005264649.3:c.1071T>G	XP_005264706.1:p.Tyr357Ter
XR_939749.1:n.1964T>G
XM_017005376.2:c.1071T>G	XP_016860865.1:p.Tyr357Ter
NM_004836.7:c.1755T>G MANE Select	NP_004827.4:p.Tyr585Ter
NM_001313915.2:c.1302T>G	NP_001300844.1:p.Tyr434Ter