Canonical Allele Identifier: CA347591497

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2986037
• ClinVar RCV Id: RCV003843708 ; RCV004366933
• MyVariant Identifiers: chr2:g.88874585T>C (hg19) ; chr2:g.88575067T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575067T>C , CM000664.2:g.88575067T>C	GRCh38
NC_000002.11:g.88874585T>C , CM000664.1:g.88874585T>C	GRCh37
NC_000002.10:g.88655700T>C	NCBI36
NG_016424.1:g.57510A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2244A>G
ENST00000682276.1:n.1861A>G
ENST00000682892.1:c.1963A>G	ENSP00000507214.1:p.Ile655Val
ENST00000682952.1:n.2055A>G
ENST00000684455.1:c.1629A>G
ENST00000684642.1:c.1813A>G	ENSP00000507355.1:p.Ile605Val
ENST00000684740.1:n.2594A>G
ENST00000303236.9:c.2416A>G MANE Select	ENSP00000307235.3:p.Ile806Val
ENST00000652099.1:c.2610A>G
ENST00000652736.1:n.2292A>G
ENST00000303236.7:c.2416A>G	ENSP00000307235.3:p.Ile806Val
ENST00000415570.1:c.2053A>G	ENSP00000412076.1:p.Ile685Val
ENST00000419748.5:c.1963A>G	ENSP00000408325.1:p.Ile655Val
ENST00000470706.1:n.59A>G
NM_001313915.1:c.1963A>G	NP_001300844.1:p.Ile655Val
NM_004836.5:c.2416A>G	NP_004827.4:p.Ile806Val
NM_004836.6:c.2416A>G	NP_004827.4:p.Ile806Val
NR_110236.1:n.1204T>C
XM_005264649.3:c.1732A>G	XP_005264706.1:p.Ile578Val
XM_017005376.2:c.1732A>G	XP_016860865.1:p.Ile578Val
NM_004836.7:c.2416A>G MANE Select	NP_004827.4:p.Ile806Val
NM_001313915.2:c.1963A>G	NP_001300844.1:p.Ile655Val