Canonical Allele Identifier: CA347593960

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1031732785
• gnomAD v3: 2-88583439-T-C
• gnomAD v4: 2-88583439-T-C
• MyVariant Identifiers: chr2:g.88882957T>C (hg19) ; chr2:g.88583439T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583439T>C , CM000664.2:g.88583439T>C	GRCh38
NC_000002.11:g.88882957T>C , CM000664.1:g.88882957T>C	GRCh37
NC_000002.10:g.88664072T>C	NCBI36
NG_016424.1:g.49138A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1199A>G
ENST00000682892.1:c.1301A>G	ENSP00000507214.1:p.Tyr434Cys
ENST00000682952.1:n.1393A>G
ENST00000684455.1:c.967A>G
ENST00000684642.1:c.1151A>G	ENSP00000507355.1:p.Tyr384Cys
ENST00000303236.9:c.1754A>G MANE Select	ENSP00000307235.3:p.Tyr585Cys
ENST00000652099.1:c.1948A>G
ENST00000652736.1:n.1630A>G
ENST00000303236.7:c.1754A>G	ENSP00000307235.3:p.Tyr585Cys
ENST00000415570.1:c.1391A>G	ENSP00000412076.1:p.Tyr464Cys
ENST00000419748.5:c.1301A>G	ENSP00000408325.1:p.Tyr434Cys
NM_001313915.1:c.1301A>G	NP_001300844.1:p.Tyr434Cys
NM_004836.5:c.1754A>G	NP_004827.4:p.Tyr585Cys
NM_004836.6:c.1754A>G	NP_004827.4:p.Tyr585Cys
XM_005264649.3:c.1070A>G	XP_005264706.1:p.Tyr357Cys
XR_939749.1:n.1963A>G
XM_017005376.2:c.1070A>G	XP_016860865.1:p.Tyr357Cys
NM_004836.7:c.1754A>G MANE Select	NP_004827.4:p.Tyr585Cys
NM_001313915.2:c.1301A>G	NP_001300844.1:p.Tyr434Cys