Canonical Allele Identifier: CA347591474

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874579A>T (hg19) ; chr2:g.88575061A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575061A>T , CM000664.2:g.88575061A>T	GRCh38
NC_000002.11:g.88874579A>T , CM000664.1:g.88874579A>T	GRCh37
NC_000002.10:g.88655694A>T	NCBI36
NG_016424.1:g.57516T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2250T>A
ENST00000682276.1:n.1867T>A
ENST00000682892.1:c.1969T>A	ENSP00000507214.1:p.Phe657Ile
ENST00000682952.1:n.2061T>A
ENST00000684455.1:c.1635T>A
ENST00000684642.1:c.1819T>A	ENSP00000507355.1:p.Phe607Ile
ENST00000684740.1:n.2600T>A
ENST00000303236.9:c.2422T>A MANE Select	ENSP00000307235.3:p.Phe808Ile
ENST00000652099.1:c.2616T>A
ENST00000652736.1:n.2298T>A
ENST00000303236.7:c.2422T>A	ENSP00000307235.3:p.Phe808Ile
ENST00000415570.1:c.2059T>A	ENSP00000412076.1:p.Phe687Ile
ENST00000419748.5:c.1969T>A	ENSP00000408325.1:p.Phe657Ile
ENST00000470706.1:n.65T>A
NM_001313915.1:c.1969T>A	NP_001300844.1:p.Phe657Ile
NM_004836.5:c.2422T>A	NP_004827.4:p.Phe808Ile
NM_004836.6:c.2422T>A	NP_004827.4:p.Phe808Ile
NR_110236.1:n.1198A>T
XM_005264649.3:c.1738T>A	XP_005264706.1:p.Phe580Ile
XM_017005376.2:c.1738T>A	XP_016860865.1:p.Phe580Ile
NM_004836.7:c.2422T>A MANE Select	NP_004827.4:p.Phe808Ile
NM_001313915.2:c.1969T>A	NP_001300844.1:p.Phe657Ile