Canonical Allele Identifier: CA427173230

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874940A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575422A>C , CM000664.2:g.88575422A>C	GRCh38
NC_000002.11:g.88874940A>C , CM000664.1:g.88874940A>C	GRCh37
NC_000002.10:g.88656055A>C	NCBI36
NG_016424.1:g.57155T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1889T>G
ENST00000682276.1:n.1506T>G
ENST00000682892.1:c.1608T>G	ENSP00000507214.1:p.Pro536=
ENST00000682952.1:n.1700T>G
ENST00000684455.1:c.1274T>G
ENST00000684642.1:c.1458T>G	ENSP00000507355.1:p.Pro486=
ENST00000684740.1:n.2239T>G
ENST00000303236.9:c.2061T>G MANE Select	ENSP00000307235.3:p.Pro687=
ENST00000652099.1:c.2255T>G
ENST00000652736.1:n.1937T>G
ENST00000303236.7:c.2061T>G	ENSP00000307235.3:p.Pro687=
ENST00000415570.1:c.1698T>G	ENSP00000412076.1:p.Pro566=
ENST00000419748.5:c.1608T>G	ENSP00000408325.1:p.Pro536=
ENST00000478003.1:n.627T>G
NM_001313915.1:c.1608T>G	NP_001300844.1:p.Pro536=
NM_004836.5:c.2061T>G	NP_004827.4:p.Pro687=
NM_004836.6:c.2061T>G	NP_004827.4:p.Pro687=
NR_110236.1:n.1559A>C
XM_005264649.3:c.1377T>G	XP_005264706.1:p.Pro459=
XR_939749.1:n.2340T>G
XM_017005376.2:c.1377T>G	XP_016860865.1:p.Pro459=
NM_004836.7:c.2061T>G MANE Select	NP_004827.4:p.Pro687=
NM_001313915.2:c.1608T>G	NP_001300844.1:p.Pro536=