Canonical Allele Identifier: CA347592705

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874852G>T (hg19) ; chr2:g.88575334G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575334G>T , CM000664.2:g.88575334G>T	GRCh38
NC_000002.11:g.88874852G>T , CM000664.1:g.88874852G>T	GRCh37
NC_000002.10:g.88655967G>T	NCBI36
NG_016424.1:g.57243C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1977C>A
ENST00000682276.1:n.1594C>A
ENST00000682892.1:c.1696C>A	ENSP00000507214.1:p.Gln566Lys
ENST00000682952.1:n.1788C>A
ENST00000684455.1:c.1362C>A
ENST00000684642.1:c.1546C>A	ENSP00000507355.1:p.Gln516Lys
ENST00000684740.1:n.2327C>A
ENST00000303236.9:c.2149C>A MANE Select	ENSP00000307235.3:p.Gln717Lys
ENST00000652099.1:c.2343C>A
ENST00000652736.1:n.2025C>A
ENST00000303236.7:c.2149C>A	ENSP00000307235.3:p.Gln717Lys
ENST00000415570.1:c.1786C>A	ENSP00000412076.1:p.Gln596Lys
ENST00000419748.5:c.1696C>A	ENSP00000408325.1:p.Gln566Lys
ENST00000470706.1:n.48+27C>A
NM_001313915.1:c.1696C>A	NP_001300844.1:p.Gln566Lys
NM_004836.5:c.2149C>A	NP_004827.4:p.Gln717Lys
NM_004836.6:c.2149C>A	NP_004827.4:p.Gln717Lys
NR_110236.1:n.1471G>T
XM_005264649.3:c.1465C>A	XP_005264706.1:p.Gln489Lys
XR_939749.1:n.2428C>A
XM_017005376.2:c.1465C>A	XP_016860865.1:p.Gln489Lys
NM_004836.7:c.2149C>A MANE Select	NP_004827.4:p.Gln717Lys
NM_001313915.2:c.1696C>A	NP_001300844.1:p.Gln566Lys