Canonical Allele Identifier: CA347592382

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874780G>C (hg19) ; chr2:g.88575262G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575262G>C , CM000664.2:g.88575262G>C	GRCh38
NC_000002.11:g.88874780G>C , CM000664.1:g.88874780G>C	GRCh37
NC_000002.10:g.88655895G>C	NCBI36
NG_016424.1:g.57315C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2049C>G
ENST00000682276.1:n.1666C>G
ENST00000682892.1:c.1768C>G	ENSP00000507214.1:p.Leu590Val
ENST00000682952.1:n.1860C>G
ENST00000684455.1:c.1434C>G
ENST00000684642.1:c.1618C>G	ENSP00000507355.1:p.Leu540Val
ENST00000684740.1:n.2399C>G
ENST00000303236.9:c.2221C>G MANE Select	ENSP00000307235.3:p.Leu741Val
ENST00000652099.1:c.2415C>G
ENST00000652736.1:n.2097C>G
ENST00000303236.7:c.2221C>G	ENSP00000307235.3:p.Leu741Val
ENST00000415570.1:c.1858C>G	ENSP00000412076.1:p.Leu620Val
ENST00000419748.5:c.1768C>G	ENSP00000408325.1:p.Leu590Val
ENST00000470706.1:n.48+99C>G
NM_001313915.1:c.1768C>G	NP_001300844.1:p.Leu590Val
NM_004836.5:c.2221C>G	NP_004827.4:p.Leu741Val
NM_004836.6:c.2221C>G	NP_004827.4:p.Leu741Val
NR_110236.1:n.1399G>C
XM_005264649.3:c.1537C>G	XP_005264706.1:p.Leu513Val
XR_939749.1:n.2500C>G
XM_017005376.2:c.1537C>G	XP_016860865.1:p.Leu513Val
NM_004836.7:c.2221C>G MANE Select	NP_004827.4:p.Leu741Val
NM_001313915.2:c.1768C>G	NP_001300844.1:p.Leu590Val