Canonical Allele Identifier: CA534630208

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1376399570
• gnomAD v2: 2-88874990-G-GT
• gnomAD v3: 2-88575472-G-GT
• gnomAD v4: 2-88575472-G-GT
• MyVariant Identifiers: chr2:g.88874990_88874991insT (hg19) ; chr2:g.88575472_88575473insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575473dup , CM000664.2:g.88575473dup	GRCh38
NC_000002.11:g.88874991dup , CM000664.1:g.88874991dup	GRCh37
NC_000002.10:g.88656106dup	NCBI36
NG_016424.1:g.57104dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-27dup
ENST00000682276.1:n.1482-27dup
ENST00000682892.1:c.1584-27dup	ENSP00000507214.1:n.1584-27dup
ENST00000682952.1:n.1676-27dup
ENST00000684455.1:c.1250-27dup
ENST00000684642.1:c.1434-27dup	ENSP00000507355.1:n.1434-27dup
ENST00000684740.1:n.2215-27dup
ENST00000303236.9:c.2037-27dup MANE Select	ENSP00000307235.3:n.2037-27dup
ENST00000652099.1:c.2231-27dup
ENST00000652736.1:n.1913-27dup
ENST00000303236.7:c.2037-27dup	ENSP00000307235.3:n.2037-27dup
ENST00000415570.1:c.1674-27dup	ENSP00000412076.1:n.1674-27dup
ENST00000419748.5:c.1584-27dup	ENSP00000408325.1:n.1584-27dup
ENST00000478003.1:n.603-27dup
NM_001313915.1:c.1584-27dup	NP_001300844.1:n.1584-27dup
NM_004836.5:c.2037-27dup	NP_004827.4:n.2037-27dup
NM_004836.6:c.2037-27dup	NP_004827.4:n.2037-27dup
NR_110236.1:n.1610dup
XM_005264649.3:c.1353-27dup	XP_005264706.1:n.1353-27dup
XR_939749.1:n.2316-27dup
XM_017005376.2:c.1353-27dup	XP_016860865.1:n.1353-27dup
NM_004836.7:c.2037-27dup MANE Select	NP_004827.4:n.2037-27dup
NM_001313915.2:c.1584-27dup	NP_001300844.1:n.1584-27dup