Canonical Allele Identifier: CA347592422

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1374305
• ClinVar RCV Id: RCV001877759
• dbSNP Id: rs765442506
• MyVariant Identifiers: chr2:g.88874790C>A (hg19) ; chr2:g.88575272C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575272C>A , CM000664.2:g.88575272C>A	GRCh38
NC_000002.11:g.88874790C>A , CM000664.1:g.88874790C>A	GRCh37
NC_000002.10:g.88655905C>A	NCBI36
NG_016424.1:g.57305G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2039G>T
ENST00000682276.1:n.1656G>T
ENST00000682892.1:c.1758G>T	ENSP00000507214.1:p.Gln586His
ENST00000682952.1:n.1850G>T
ENST00000684455.1:c.1424G>T
ENST00000684642.1:c.1608G>T	ENSP00000507355.1:p.Gln536His
ENST00000684740.1:n.2389G>T
ENST00000303236.9:c.2211G>T MANE Select	ENSP00000307235.3:p.Gln737His
ENST00000652099.1:c.2405G>T
ENST00000652736.1:n.2087G>T
ENST00000303236.7:c.2211G>T	ENSP00000307235.3:p.Gln737His
ENST00000415570.1:c.1848G>T	ENSP00000412076.1:p.Gln616His
ENST00000419748.5:c.1758G>T	ENSP00000408325.1:p.Gln586His
ENST00000470706.1:n.48+89G>T
NM_001313915.1:c.1758G>T	NP_001300844.1:p.Gln586His
NM_004836.5:c.2211G>T	NP_004827.4:p.Gln737His
NM_004836.6:c.2211G>T	NP_004827.4:p.Gln737His
NR_110236.1:n.1409C>A
XM_005264649.3:c.1527G>T	XP_005264706.1:p.Gln509His
XR_939749.1:n.2490G>T
XM_017005376.2:c.1527G>T	XP_016860865.1:p.Gln509His
NM_004836.7:c.2211G>T MANE Select	NP_004827.4:p.Gln737His
NM_001313915.2:c.1758G>T	NP_001300844.1:p.Gln586His