Canonical Allele Identifier: CA347591476

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874581A>C (hg19) ; chr2:g.88575063A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575063A>C , CM000664.2:g.88575063A>C	GRCh38
NC_000002.11:g.88874581A>C , CM000664.1:g.88874581A>C	GRCh37
NC_000002.10:g.88655696A>C	NCBI36
NG_016424.1:g.57514T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2248T>G
ENST00000682276.1:n.1865T>G
ENST00000682892.1:c.1967T>G	ENSP00000507214.1:p.Val656Gly
ENST00000682952.1:n.2059T>G
ENST00000684455.1:c.1633T>G
ENST00000684642.1:c.1817T>G	ENSP00000507355.1:p.Val606Gly
ENST00000684740.1:n.2598T>G
ENST00000303236.9:c.2420T>G MANE Select	ENSP00000307235.3:p.Val807Gly
ENST00000652099.1:c.2614T>G
ENST00000652736.1:n.2296T>G
ENST00000303236.7:c.2420T>G	ENSP00000307235.3:p.Val807Gly
ENST00000415570.1:c.2057T>G	ENSP00000412076.1:p.Val686Gly
ENST00000419748.5:c.1967T>G	ENSP00000408325.1:p.Val656Gly
ENST00000470706.1:n.63T>G
NM_001313915.1:c.1967T>G	NP_001300844.1:p.Val656Gly
NM_004836.5:c.2420T>G	NP_004827.4:p.Val807Gly
NM_004836.6:c.2420T>G	NP_004827.4:p.Val807Gly
NR_110236.1:n.1200A>C
XM_005264649.3:c.1736T>G	XP_005264706.1:p.Val579Gly
XM_017005376.2:c.1736T>G	XP_016860865.1:p.Val579Gly
NM_004836.7:c.2420T>G MANE Select	NP_004827.4:p.Val807Gly
NM_001313915.2:c.1967T>G	NP_001300844.1:p.Val656Gly