Canonical Allele Identifier: CA347592894

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874894A>C (hg19) ; chr2:g.88575376A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575376A>C , CM000664.2:g.88575376A>C	GRCh38
NC_000002.11:g.88874894A>C , CM000664.1:g.88874894A>C	GRCh37
NC_000002.10:g.88656009A>C	NCBI36
NG_016424.1:g.57201T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.1935T>G
ENST00000682276.1:n.1552T>G
ENST00000682892.1:c.1654T>G	ENSP00000507214.1:p.Phe552Val
ENST00000682952.1:n.1746T>G
ENST00000684455.1:c.1320T>G
ENST00000684642.1:c.1504T>G	ENSP00000507355.1:p.Phe502Val
ENST00000684740.1:n.2285T>G
ENST00000303236.9:c.2107T>G MANE Select	ENSP00000307235.3:p.Phe703Val
ENST00000652099.1:c.2301T>G
ENST00000652736.1:n.1983T>G
ENST00000303236.7:c.2107T>G	ENSP00000307235.3:p.Phe703Val
ENST00000415570.1:c.1744T>G	ENSP00000412076.1:p.Phe582Val
ENST00000419748.5:c.1654T>G	ENSP00000408325.1:p.Phe552Val
ENST00000470706.1:n.33T>G
NM_001313915.1:c.1654T>G	NP_001300844.1:p.Phe552Val
NM_004836.5:c.2107T>G	NP_004827.4:p.Phe703Val
NM_004836.6:c.2107T>G	NP_004827.4:p.Phe703Val
NR_110236.1:n.1513A>C
XM_005264649.3:c.1423T>G	XP_005264706.1:p.Phe475Val
XR_939749.1:n.2386T>G
XM_017005376.2:c.1423T>G	XP_016860865.1:p.Phe475Val
NM_004836.7:c.2107T>G MANE Select	NP_004827.4:p.Phe703Val
NM_001313915.2:c.1654T>G	NP_001300844.1:p.Phe552Val