Canonical Allele Identifier: CA534630209

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1190452016
• gnomAD v2: 2-88875130-A-T
• gnomAD v3: 2-88575612-A-T
• gnomAD v4: 2-88575612-A-T
• MyVariant Identifiers: chr2:g.88875130A>T (hg19) ; chr2:g.88575612A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575612A>T , CM000664.2:g.88575612A>T	GRCh38
NC_000002.11:g.88875130A>T , CM000664.1:g.88875130A>T	GRCh37
NC_000002.10:g.88656245A>T	NCBI36
NG_016424.1:g.56965T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-166T>A
ENST00000682276.1:n.1482-166T>A
ENST00000682892.1:c.1584-166T>A	ENSP00000507214.1:n.1584-166T>A
ENST00000682952.1:n.1676-166T>A
ENST00000684455.1:c.1250-166T>A
ENST00000684642.1:c.1434-166T>A	ENSP00000507355.1:n.1434-166T>A
ENST00000684740.1:n.2215-166T>A
ENST00000303236.9:c.2037-166T>A MANE Select	ENSP00000307235.3:n.2037-166T>A
ENST00000652099.1:c.2231-166T>A
ENST00000652736.1:n.1913-166T>A
ENST00000303236.7:c.2037-166T>A	ENSP00000307235.3:n.2037-166T>A
ENST00000415570.1:c.1674-166T>A	ENSP00000412076.1:n.1674-166T>A
ENST00000419748.5:c.1584-166T>A	ENSP00000408325.1:n.1584-166T>A
ENST00000478003.1:n.603-166T>A
NM_001313915.1:c.1584-166T>A	NP_001300844.1:n.1584-166T>A
NM_004836.5:c.2037-166T>A	NP_004827.4:n.2037-166T>A
NM_004836.6:c.2037-166T>A	NP_004827.4:n.2037-166T>A
XM_005264649.3:c.1353-166T>A	XP_005264706.1:n.1353-166T>A
XR_939749.1:n.2316-166T>A
XM_017005376.2:c.1353-166T>A	XP_016860865.1:n.1353-166T>A
NM_004836.7:c.2037-166T>A MANE Select	NP_004827.4:n.2037-166T>A
NM_001313915.2:c.1584-166T>A	NP_001300844.1:n.1584-166T>A