Canonical Allele Identifier: CA1754484

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs752958536
• ExAC: 2:88874809 G / T
• gnomAD v2: 2-88874809-G-T
• gnomAD v4: 2-88575291-G-T
• MyVariant Identifiers: chr2:g.88874809G>T (hg19) ; chr2:g.88575291G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2020C>A
ENST00000682276.1:n.1637C>A
ENST00000682892.1:c.1739C>A	ENSP00000507214.1:p.Thr580Lys
ENST00000682952.1:n.1831C>A
ENST00000684455.1:c.1405C>A
ENST00000684642.1:c.1589C>A	ENSP00000507355.1:p.Thr530Lys
ENST00000684740.1:n.2370C>A
ENST00000303236.9:c.2192C>A MANE Select	ENSP00000307235.3:p.Thr731Lys
ENST00000652099.1:c.2386C>A
ENST00000652736.1:n.2068C>A
ENST00000303236.7:c.2192C>A	ENSP00000307235.3:p.Thr731Lys
ENST00000415570.1:c.1829C>A	ENSP00000412076.1:p.Thr610Lys
ENST00000419748.5:c.1739C>A	ENSP00000408325.1:p.Thr580Lys
ENST00000470706.1:n.48+70C>A
NM_001313915.1:c.1739C>A	NP_001300844.1:p.Thr580Lys
NM_004836.5:c.2192C>A	NP_004827.4:p.Thr731Lys
NM_004836.6:c.2192C>A	NP_004827.4:p.Thr731Lys
NR_110236.1:n.1428G>T
XM_005264649.3:c.1508C>A	XP_005264706.1:p.Thr503Lys
XR_939749.1:n.2471C>A
XM_017005376.2:c.1508C>A	XP_016860865.1:p.Thr503Lys
NM_004836.7:c.2192C>A MANE Select	NP_004827.4:p.Thr731Lys
NM_001313915.2:c.1739C>A	NP_001300844.1:p.Thr580Lys