Canonical Allele Identifier: CA347592930

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874906T>A (hg19) ; chr2:g.88575388T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575388T>A , CM000664.2:g.88575388T>A	GRCh38
NC_000002.11:g.88874906T>A , CM000664.1:g.88874906T>A	GRCh37
NC_000002.10:g.88656021T>A	NCBI36
NG_016424.1:g.57189A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1923A>T
ENST00000682276.1:n.1540A>T
ENST00000682892.1:c.1642A>T	ENSP00000507214.1:p.Arg548Ter
ENST00000682952.1:n.1734A>T
ENST00000684455.1:c.1308A>T
ENST00000684642.1:c.1492A>T	ENSP00000507355.1:p.Arg498Ter
ENST00000684740.1:n.2273A>T
ENST00000303236.9:c.2095A>T MANE Select	ENSP00000307235.3:p.Arg699Ter
ENST00000652099.1:c.2289A>T
ENST00000652736.1:n.1971A>T
ENST00000303236.7:c.2095A>T	ENSP00000307235.3:p.Arg699Ter
ENST00000415570.1:c.1732A>T	ENSP00000412076.1:p.Arg578Ter
ENST00000419748.5:c.1642A>T	ENSP00000408325.1:p.Arg548Ter
ENST00000470706.1:n.21A>T
ENST00000478003.1:n.661A>T
NM_001313915.1:c.1642A>T	NP_001300844.1:p.Arg548Ter
NM_004836.5:c.2095A>T	NP_004827.4:p.Arg699Ter
NM_004836.6:c.2095A>T	NP_004827.4:p.Arg699Ter
NR_110236.1:n.1525T>A
XM_005264649.3:c.1411A>T	XP_005264706.1:p.Arg471Ter
XR_939749.1:n.2374A>T
XM_017005376.2:c.1411A>T	XP_016860865.1:p.Arg471Ter
NM_004836.7:c.2095A>T MANE Select	NP_004827.4:p.Arg699Ter
NM_001313915.2:c.1642A>T	NP_001300844.1:p.Arg548Ter