Canonical Allele Identifier: CA347592929

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874905C>T (hg19) ; chr2:g.88575387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575387C>T , CM000664.2:g.88575387C>T	GRCh38
NC_000002.11:g.88874905C>T , CM000664.1:g.88874905C>T	GRCh37
NC_000002.10:g.88656020C>T	NCBI36
NG_016424.1:g.57190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1924G>A
ENST00000682276.1:n.1541G>A
ENST00000682892.1:c.1643G>A	ENSP00000507214.1:p.Arg548Lys
ENST00000682952.1:n.1735G>A
ENST00000684455.1:c.1309G>A
ENST00000684642.1:c.1493G>A	ENSP00000507355.1:p.Arg498Lys
ENST00000684740.1:n.2274G>A
ENST00000303236.9:c.2096G>A MANE Select	ENSP00000307235.3:p.Arg699Lys
ENST00000652099.1:c.2290G>A
ENST00000652736.1:n.1972G>A
ENST00000303236.7:c.2096G>A	ENSP00000307235.3:p.Arg699Lys
ENST00000415570.1:c.1733G>A	ENSP00000412076.1:p.Arg578Lys
ENST00000419748.5:c.1643G>A	ENSP00000408325.1:p.Arg548Lys
ENST00000470706.1:n.22G>A
ENST00000478003.1:n.662G>A
NM_001313915.1:c.1643G>A	NP_001300844.1:p.Arg548Lys
NM_004836.5:c.2096G>A	NP_004827.4:p.Arg699Lys
NM_004836.6:c.2096G>A	NP_004827.4:p.Arg699Lys
NR_110236.1:n.1524C>T
XM_005264649.3:c.1412G>A	XP_005264706.1:p.Arg471Lys
XR_939749.1:n.2375G>A
XM_017005376.2:c.1412G>A	XP_016860865.1:p.Arg471Lys
NM_004836.7:c.2096G>A MANE Select	NP_004827.4:p.Arg699Lys
NM_001313915.2:c.1643G>A	NP_001300844.1:p.Arg548Lys