Canonical Allele Identifier: CA347593017

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874950A>G (hg19) ; chr2:g.88575432A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575432A>G , CM000664.2:g.88575432A>G	GRCh38
NC_000002.11:g.88874950A>G , CM000664.1:g.88874950A>G	GRCh37
NC_000002.10:g.88656065A>G	NCBI36
NG_016424.1:g.57145T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1879T>C
ENST00000682276.1:n.1496T>C
ENST00000682892.1:c.1598T>C	ENSP00000507214.1:p.Leu533Pro
ENST00000682952.1:n.1690T>C
ENST00000684455.1:c.1264T>C
ENST00000684642.1:c.1448T>C	ENSP00000507355.1:p.Leu483Pro
ENST00000684740.1:n.2229T>C
ENST00000303236.9:c.2051T>C MANE Select	ENSP00000307235.3:p.Leu684Pro
ENST00000652099.1:c.2245T>C
ENST00000652736.1:n.1927T>C
ENST00000303236.7:c.2051T>C	ENSP00000307235.3:p.Leu684Pro
ENST00000415570.1:c.1688T>C	ENSP00000412076.1:p.Leu563Pro
ENST00000419748.5:c.1598T>C	ENSP00000408325.1:p.Leu533Pro
ENST00000478003.1:n.617T>C
NM_001313915.1:c.1598T>C	NP_001300844.1:p.Leu533Pro
NM_004836.5:c.2051T>C	NP_004827.4:p.Leu684Pro
NM_004836.6:c.2051T>C	NP_004827.4:p.Leu684Pro
NR_110236.1:n.1569A>G
XM_005264649.3:c.1367T>C	XP_005264706.1:p.Leu456Pro
XR_939749.1:n.2330T>C
XM_017005376.2:c.1367T>C	XP_016860865.1:p.Leu456Pro
NM_004836.7:c.2051T>C MANE Select	NP_004827.4:p.Leu684Pro
NM_001313915.2:c.1598T>C	NP_001300844.1:p.Leu533Pro