Canonical Allele Identifier: CA347592251

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575235-C-A
• MyVariant Identifiers: chr2:g.88874753C>A (hg19) ; chr2:g.88575235C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2076G>T
ENST00000682276.1:n.1693G>T
ENST00000682892.1:c.1795G>T	ENSP00000507214.1:p.Asp599Tyr
ENST00000682952.1:n.1887G>T
ENST00000684455.1:c.1461G>T
ENST00000684642.1:c.1645G>T	ENSP00000507355.1:p.Asp549Tyr
ENST00000684740.1:n.2426G>T
ENST00000303236.9:c.2248G>T MANE Select	ENSP00000307235.3:p.Asp750Tyr
ENST00000652099.1:c.2442G>T
ENST00000652736.1:n.2124G>T
ENST00000303236.7:c.2248G>T	ENSP00000307235.3:p.Asp750Tyr
ENST00000415570.1:c.1885G>T	ENSP00000412076.1:p.Asp629Tyr
ENST00000419748.5:c.1795G>T	ENSP00000408325.1:p.Asp599Tyr
ENST00000470706.1:n.48+126G>T
NM_001313915.1:c.1795G>T	NP_001300844.1:p.Asp599Tyr
NM_004836.5:c.2248G>T	NP_004827.4:p.Asp750Tyr
NM_004836.6:c.2248G>T	NP_004827.4:p.Asp750Tyr
NR_110236.1:n.1372C>A
XM_005264649.3:c.1564G>T	XP_005264706.1:p.Asp522Tyr
XM_017005376.2:c.1564G>T	XP_016860865.1:p.Asp522Tyr
NM_004836.7:c.2248G>T MANE Select	NP_004827.4:p.Asp750Tyr
NM_001313915.2:c.1795G>T	NP_001300844.1:p.Asp599Tyr