Canonical Allele Identifier: CA347592510

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs752958536
• gnomAD v3: 2-88575291-G-C
• gnomAD v4: 2-88575291-G-C
• MyVariant Identifiers: chr2:g.88874809G>C (hg19) ; chr2:g.88575291G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575291G>C , CM000664.2:g.88575291G>C	GRCh38
NC_000002.11:g.88874809G>C , CM000664.1:g.88874809G>C	GRCh37
NC_000002.10:g.88655924G>C	NCBI36
NG_016424.1:g.57286C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2020C>G
ENST00000682276.1:n.1637C>G
ENST00000682892.1:c.1739C>G	ENSP00000507214.1:p.Thr580Arg
ENST00000682952.1:n.1831C>G
ENST00000684455.1:c.1405C>G
ENST00000684642.1:c.1589C>G	ENSP00000507355.1:p.Thr530Arg
ENST00000684740.1:n.2370C>G
ENST00000303236.9:c.2192C>G MANE Select	ENSP00000307235.3:p.Thr731Arg
ENST00000652099.1:c.2386C>G
ENST00000652736.1:n.2068C>G
ENST00000303236.7:c.2192C>G	ENSP00000307235.3:p.Thr731Arg
ENST00000415570.1:c.1829C>G	ENSP00000412076.1:p.Thr610Arg
ENST00000419748.5:c.1739C>G	ENSP00000408325.1:p.Thr580Arg
ENST00000470706.1:n.48+70C>G
NM_001313915.1:c.1739C>G	NP_001300844.1:p.Thr580Arg
NM_004836.5:c.2192C>G	NP_004827.4:p.Thr731Arg
NM_004836.6:c.2192C>G	NP_004827.4:p.Thr731Arg
NR_110236.1:n.1428G>C
XM_005264649.3:c.1508C>G	XP_005264706.1:p.Thr503Arg
XR_939749.1:n.2471C>G
XM_017005376.2:c.1508C>G	XP_016860865.1:p.Thr503Arg
NM_004836.7:c.2192C>G MANE Select	NP_004827.4:p.Thr731Arg
NM_001313915.2:c.1739C>G	NP_001300844.1:p.Thr580Arg