Canonical Allele Identifier: CA1268208295

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674438006
• gnomAD v4: 2-88575596-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575599_88575600dup , CM000664.2:g.88575599_88575600dup	GRCh38
NC_000002.11:g.88875117_88875118dup , CM000664.1:g.88875117_88875118dup	GRCh37
NC_000002.10:g.88656232_88656233dup	NCBI36
NG_016424.1:g.56979_56980dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-152_1865-151dup
ENST00000682276.1:n.1482-152_1482-151dup
ENST00000682892.1:c.1584-152_1584-151dup	ENSP00000507214.1:n.1584-152_1584-151dup
ENST00000682952.1:n.1676-152_1676-151dup
ENST00000684455.1:c.1250-152_1250-151dup
ENST00000684642.1:c.1434-152_1434-151dup	ENSP00000507355.1:n.1434-152_1434-151dup
ENST00000684740.1:n.2215-152_2215-151dup
ENST00000303236.9:c.2037-152_2037-151dup MANE Select	ENSP00000307235.3:n.2037-152_2037-151dup
ENST00000652099.1:c.2231-152_2231-151dup
ENST00000652736.1:n.1913-152_1913-151dup
ENST00000303236.7:c.2037-152_2037-151dup	ENSP00000307235.3:n.2037-152_2037-151dup
ENST00000415570.1:c.1674-152_1674-151dup	ENSP00000412076.1:n.1674-152_1674-151dup
ENST00000419748.5:c.1584-152_1584-151dup	ENSP00000408325.1:n.1584-152_1584-151dup
ENST00000478003.1:n.603-152_603-151dup
NM_001313915.1:c.1584-152_1584-151dup	NP_001300844.1:n.1584-152_1584-151dup
NM_004836.5:c.2037-152_2037-151dup	NP_004827.4:n.2037-152_2037-151dup
NM_004836.6:c.2037-152_2037-151dup	NP_004827.4:n.2037-152_2037-151dup
NR_110236.1:n.1736_1737dup
XM_005264649.3:c.1353-152_1353-151dup	XP_005264706.1:n.1353-152_1353-151dup
XR_939749.1:n.2316-152_2316-151dup
XM_017005376.2:c.1353-152_1353-151dup	XP_016860865.1:n.1353-152_1353-151dup
NM_004836.7:c.2037-152_2037-151dup MANE Select	NP_004827.4:n.2037-152_2037-151dup
NM_001313915.2:c.1584-152_1584-151dup	NP_001300844.1:n.1584-152_1584-151dup