Canonical Allele Identifier: CA51486902

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1045083451
• gnomAD v2: 2-88875172-CT-C
• gnomAD v3: 2-88575654-CT-C
• gnomAD v4: 2-88575654-CT-C
• MyVariant Identifiers: chr2:g.88875173del (hg19) ; chr2:g.88575655del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575656del , CM000664.2:g.88575656del	GRCh38
NC_000002.11:g.88875174del , CM000664.1:g.88875174del	GRCh37
NC_000002.10:g.88656289del	NCBI36
NG_016424.1:g.56922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-209del
ENST00000682276.1:n.1482-209del
ENST00000682892.1:c.1584-209del	ENSP00000507214.1:n.1584-209del
ENST00000682952.1:n.1676-209del
ENST00000684455.1:c.1250-209del
ENST00000684642.1:c.1434-209del	ENSP00000507355.1:n.1434-209del
ENST00000684740.1:n.2215-209del
ENST00000303236.9:c.2037-209del MANE Select	ENSP00000307235.3:n.2037-209del
ENST00000652099.1:c.2231-209del
ENST00000652736.1:n.1913-209del
ENST00000303236.7:c.2037-209del	ENSP00000307235.3:n.2037-209del
ENST00000415570.1:c.1674-209del	ENSP00000412076.1:n.1674-209del
ENST00000419748.5:c.1584-209del	ENSP00000408325.1:n.1584-209del
ENST00000478003.1:n.603-209del
NM_001313915.1:c.1584-209del	NP_001300844.1:n.1584-209del
NM_004836.5:c.2037-209del	NP_004827.4:n.2037-209del
NM_004836.6:c.2037-209del	NP_004827.4:n.2037-209del
XM_005264649.3:c.1353-209del	XP_005264706.1:n.1353-209del
XR_939749.1:n.2316-209del
XM_017005376.2:c.1353-209del	XP_016860865.1:n.1353-209del
NM_004836.7:c.2037-209del MANE Select	NP_004827.4:n.2037-209del
NM_001313915.2:c.1584-209del	NP_001300844.1:n.1584-209del