Canonical Allele Identifier: CA347592061

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874716T>A (hg19) ; chr2:g.88575198T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575198T>A , CM000664.2:g.88575198T>A	GRCh38
NC_000002.11:g.88874716T>A , CM000664.1:g.88874716T>A	GRCh37
NC_000002.10:g.88655831T>A	NCBI36
NG_016424.1:g.57379A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2113A>T
ENST00000682276.1:n.1730A>T
ENST00000682892.1:c.1832A>T	ENSP00000507214.1:p.Gln611Leu
ENST00000682952.1:n.1924A>T
ENST00000684455.1:c.1498A>T
ENST00000684642.1:c.1682A>T	ENSP00000507355.1:p.Gln561Leu
ENST00000684740.1:n.2463A>T
ENST00000303236.9:c.2285A>T MANE Select	ENSP00000307235.3:p.Gln762Leu
ENST00000652099.1:c.2479A>T
ENST00000652736.1:n.2161A>T
ENST00000303236.7:c.2285A>T	ENSP00000307235.3:p.Gln762Leu
ENST00000415570.1:c.1922A>T	ENSP00000412076.1:p.Gln641Leu
ENST00000419748.5:c.1832A>T	ENSP00000408325.1:p.Gln611Leu
ENST00000470706.1:n.49-121A>T
NM_001313915.1:c.1832A>T	NP_001300844.1:p.Gln611Leu
NM_004836.5:c.2285A>T	NP_004827.4:p.Gln762Leu
NM_004836.6:c.2285A>T	NP_004827.4:p.Gln762Leu
NR_110236.1:n.1335T>A
XM_005264649.3:c.1601A>T	XP_005264706.1:p.Gln534Leu
XM_017005376.2:c.1601A>T	XP_016860865.1:p.Gln534Leu
NM_004836.7:c.2285A>T MANE Select	NP_004827.4:p.Gln762Leu
NM_001313915.2:c.1832A>T	NP_001300844.1:p.Gln611Leu