Canonical Allele Identifier: CA347591529

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874593G>C (hg19) ; chr2:g.88575075G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575075G>C , CM000664.2:g.88575075G>C	GRCh38
NC_000002.11:g.88874593G>C , CM000664.1:g.88874593G>C	GRCh37
NC_000002.10:g.88655708G>C	NCBI36
NG_016424.1:g.57502C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2236C>G
ENST00000682276.1:n.1853C>G
ENST00000682892.1:c.1955C>G	ENSP00000507214.1:p.Ser652Cys
ENST00000682952.1:n.2047C>G
ENST00000684455.1:c.1621C>G
ENST00000684642.1:c.1805C>G	ENSP00000507355.1:p.Ser602Cys
ENST00000684740.1:n.2586C>G
ENST00000303236.9:c.2408C>G MANE Select	ENSP00000307235.3:p.Ser803Cys
ENST00000652099.1:c.2602C>G
ENST00000652736.1:n.2284C>G
ENST00000303236.7:c.2408C>G	ENSP00000307235.3:p.Ser803Cys
ENST00000415570.1:c.2045C>G	ENSP00000412076.1:p.Ser682Cys
ENST00000419748.5:c.1955C>G	ENSP00000408325.1:p.Ser652Cys
ENST00000470706.1:n.51C>G
NM_001313915.1:c.1955C>G	NP_001300844.1:p.Ser652Cys
NM_004836.5:c.2408C>G	NP_004827.4:p.Ser803Cys
NM_004836.6:c.2408C>G	NP_004827.4:p.Ser803Cys
NR_110236.1:n.1212G>C
XM_005264649.3:c.1724C>G	XP_005264706.1:p.Ser575Cys
XM_017005376.2:c.1724C>G	XP_016860865.1:p.Ser575Cys
NM_004836.7:c.2408C>G MANE Select	NP_004827.4:p.Ser803Cys
NM_001313915.2:c.1955C>G	NP_001300844.1:p.Ser652Cys