Canonical Allele Identifier: CA347592607

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874831C>A (hg19) ; chr2:g.88575313C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575313C>A , CM000664.2:g.88575313C>A	GRCh38
NC_000002.11:g.88874831C>A , CM000664.1:g.88874831C>A	GRCh37
NC_000002.10:g.88655946C>A	NCBI36
NG_016424.1:g.57264G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1998G>T
ENST00000682276.1:n.1615G>T
ENST00000682892.1:c.1717G>T	ENSP00000507214.1:p.Val573Leu
ENST00000682952.1:n.1809G>T
ENST00000684455.1:c.1383G>T
ENST00000684642.1:c.1567G>T	ENSP00000507355.1:p.Val523Leu
ENST00000684740.1:n.2348G>T
ENST00000303236.9:c.2170G>T MANE Select	ENSP00000307235.3:p.Val724Leu
ENST00000652099.1:c.2364G>T
ENST00000652736.1:n.2046G>T
ENST00000303236.7:c.2170G>T	ENSP00000307235.3:p.Val724Leu
ENST00000415570.1:c.1807G>T	ENSP00000412076.1:p.Val603Leu
ENST00000419748.5:c.1717G>T	ENSP00000408325.1:p.Val573Leu
ENST00000470706.1:n.48+48G>T
NM_001313915.1:c.1717G>T	NP_001300844.1:p.Val573Leu
NM_004836.5:c.2170G>T	NP_004827.4:p.Val724Leu
NM_004836.6:c.2170G>T	NP_004827.4:p.Val724Leu
NR_110236.1:n.1450C>A
XM_005264649.3:c.1486G>T	XP_005264706.1:p.Val496Leu
XR_939749.1:n.2449G>T
XM_017005376.2:c.1486G>T	XP_016860865.1:p.Val496Leu
NM_004836.7:c.2170G>T MANE Select	NP_004827.4:p.Val724Leu
NM_001313915.2:c.1717G>T	NP_001300844.1:p.Val573Leu