Canonical Allele Identifier: CA534630194

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1238444091
• gnomAD v2: 2-88875157-A-AACT
• gnomAD v3: 2-88575639-A-AACT
• gnomAD v4: 2-88575639-A-AACT
• MyVariant Identifiers: chr2:g.88875157_88875158insACT (hg19) ; chr2:g.88575639_88575640insACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575640_88575642dup , CM000664.2:g.88575640_88575642dup	GRCh38
NC_000002.11:g.88875158_88875160dup , CM000664.1:g.88875158_88875160dup	GRCh37
NC_000002.10:g.88656273_88656275dup	NCBI36
NG_016424.1:g.56935_56937dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-196_1865-194dup
ENST00000682276.1:n.1482-196_1482-194dup
ENST00000682892.1:c.1584-196_1584-194dup	ENSP00000507214.1:n.1584-196_1584-194dup
ENST00000682952.1:n.1676-196_1676-194dup
ENST00000684455.1:c.1250-196_1250-194dup
ENST00000684642.1:c.1434-196_1434-194dup	ENSP00000507355.1:n.1434-196_1434-194dup
ENST00000684740.1:n.2215-196_2215-194dup
ENST00000303236.9:c.2037-196_2037-194dup MANE Select	ENSP00000307235.3:n.2037-196_2037-194dup
ENST00000652099.1:c.2231-196_2231-194dup
ENST00000652736.1:n.1913-196_1913-194dup
ENST00000303236.7:c.2037-196_2037-194dup	ENSP00000307235.3:n.2037-196_2037-194dup
ENST00000415570.1:c.1674-196_1674-194dup	ENSP00000412076.1:n.1674-196_1674-194dup
ENST00000419748.5:c.1584-196_1584-194dup	ENSP00000408325.1:n.1584-196_1584-194dup
ENST00000478003.1:n.603-196_603-194dup
NM_001313915.1:c.1584-196_1584-194dup	NP_001300844.1:n.1584-196_1584-194dup
NM_004836.5:c.2037-196_2037-194dup	NP_004827.4:n.2037-196_2037-194dup
NM_004836.6:c.2037-196_2037-194dup	NP_004827.4:n.2037-196_2037-194dup
XM_005264649.3:c.1353-196_1353-194dup	XP_005264706.1:n.1353-196_1353-194dup
XR_939749.1:n.2316-196_2316-194dup
XM_017005376.2:c.1353-196_1353-194dup	XP_016860865.1:n.1353-196_1353-194dup
NM_004836.7:c.2037-196_2037-194dup MANE Select	NP_004827.4:n.2037-196_2037-194dup
NM_001313915.2:c.1584-196_1584-194dup	NP_001300844.1:n.1584-196_1584-194dup