Canonical Allele Identifier: CA347592977

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874931C>T (hg19) ; chr2:g.88575413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575413C>T , CM000664.2:g.88575413C>T	GRCh38
NC_000002.11:g.88874931C>T , CM000664.1:g.88874931C>T	GRCh37
NC_000002.10:g.88656046C>T	NCBI36
NG_016424.1:g.57164G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1898G>A
ENST00000682276.1:n.1515G>A
ENST00000682892.1:c.1617G>A	ENSP00000507214.1:p.Met539Ile
ENST00000682952.1:n.1709G>A
ENST00000684455.1:c.1283G>A
ENST00000684642.1:c.1467G>A	ENSP00000507355.1:p.Met489Ile
ENST00000684740.1:n.2248G>A
ENST00000303236.9:c.2070G>A MANE Select	ENSP00000307235.3:p.Met690Ile
ENST00000652099.1:c.2264G>A
ENST00000652736.1:n.1946G>A
ENST00000303236.7:c.2070G>A	ENSP00000307235.3:p.Met690Ile
ENST00000415570.1:c.1707G>A	ENSP00000412076.1:p.Met569Ile
ENST00000419748.5:c.1617G>A	ENSP00000408325.1:p.Met539Ile
ENST00000478003.1:n.636G>A
NM_001313915.1:c.1617G>A	NP_001300844.1:p.Met539Ile
NM_004836.5:c.2070G>A	NP_004827.4:p.Met690Ile
NM_004836.6:c.2070G>A	NP_004827.4:p.Met690Ile
NR_110236.1:n.1550C>T
XM_005264649.3:c.1386G>A	XP_005264706.1:p.Met462Ile
XR_939749.1:n.2349G>A
XM_017005376.2:c.1386G>A	XP_016860865.1:p.Met462Ile
NM_004836.7:c.2070G>A MANE Select	NP_004827.4:p.Met690Ile
NM_001313915.2:c.1617G>A	NP_001300844.1:p.Met539Ile