Canonical Allele Identifier: CA347592255

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874753C>T (hg19) ; chr2:g.88575235C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575235C>T , CM000664.2:g.88575235C>T	GRCh38
NC_000002.11:g.88874753C>T , CM000664.1:g.88874753C>T	GRCh37
NC_000002.10:g.88655868C>T	NCBI36
NG_016424.1:g.57342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2076G>A
ENST00000682276.1:n.1693G>A
ENST00000682892.1:c.1795G>A	ENSP00000507214.1:p.Asp599Asn
ENST00000682952.1:n.1887G>A
ENST00000684455.1:c.1461G>A
ENST00000684642.1:c.1645G>A	ENSP00000507355.1:p.Asp549Asn
ENST00000684740.1:n.2426G>A
ENST00000303236.9:c.2248G>A MANE Select	ENSP00000307235.3:p.Asp750Asn
ENST00000652099.1:c.2442G>A
ENST00000652736.1:n.2124G>A
ENST00000303236.7:c.2248G>A	ENSP00000307235.3:p.Asp750Asn
ENST00000415570.1:c.1885G>A	ENSP00000412076.1:p.Asp629Asn
ENST00000419748.5:c.1795G>A	ENSP00000408325.1:p.Asp599Asn
ENST00000470706.1:n.48+126G>A
NM_001313915.1:c.1795G>A	NP_001300844.1:p.Asp599Asn
NM_004836.5:c.2248G>A	NP_004827.4:p.Asp750Asn
NM_004836.6:c.2248G>A	NP_004827.4:p.Asp750Asn
NR_110236.1:n.1372C>T
XM_005264649.3:c.1564G>A	XP_005264706.1:p.Asp522Asn
XM_017005376.2:c.1564G>A	XP_016860865.1:p.Asp522Asn
NM_004836.7:c.2248G>A MANE Select	NP_004827.4:p.Asp750Asn
NM_001313915.2:c.1795G>A	NP_001300844.1:p.Asp599Asn