Canonical Allele Identifier: CA347591250

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874534T>G (hg19) ; chr2:g.88575016T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575016T>G , CM000664.2:g.88575016T>G	GRCh38
NC_000002.11:g.88874534T>G , CM000664.1:g.88874534T>G	GRCh37
NC_000002.10:g.88655649T>G	NCBI36
NG_016424.1:g.57561A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2295A>C
ENST00000682103.1:c.8A>C
ENST00000682276.1:n.1912A>C
ENST00000682892.1:c.2014A>C	ENSP00000507214.1:p.Lys672Gln
ENST00000682952.1:n.2106A>C
ENST00000684455.1:c.1680A>C
ENST00000684642.1:c.1864A>C	ENSP00000507355.1:p.Lys622Gln
ENST00000684740.1:n.2645A>C
ENST00000303236.9:c.2467A>C MANE Select	ENSP00000307235.3:p.Lys823Gln
ENST00000652099.1:c.2661A>C
ENST00000652736.1:n.2343A>C
ENST00000303236.7:c.2467A>C	ENSP00000307235.3:p.Lys823Gln
ENST00000415570.1:c.2104A>C	ENSP00000412076.1:p.Lys702Gln
ENST00000419748.5:c.2014A>C	ENSP00000408325.1:p.Lys672Gln
ENST00000470706.1:n.110A>C
NM_001313915.1:c.2014A>C	NP_001300844.1:p.Lys672Gln
NM_004836.5:c.2467A>C	NP_004827.4:p.Lys823Gln
NM_004836.6:c.2467A>C	NP_004827.4:p.Lys823Gln
NR_110236.1:n.1153T>G
XM_005264649.3:c.1783A>C	XP_005264706.1:p.Lys595Gln
XM_017005376.2:c.1783A>C	XP_016860865.1:p.Lys595Gln
NM_004836.7:c.2467A>C MANE Select	NP_004827.4:p.Lys823Gln
NM_001313915.2:c.2014A>C	NP_001300844.1:p.Lys672Gln