Canonical Allele Identifier: CA894275471

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1165834540
• gnomAD v3: 2-88575648-T-A
• gnomAD v4: 2-88575648-T-A
• MyVariant Identifiers: chr2:g.88875166T>A (hg19) ; chr2:g.88575648T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575648T>A , CM000664.2:g.88575648T>A	GRCh38
NC_000002.11:g.88875166T>A , CM000664.1:g.88875166T>A	GRCh37
NC_000002.10:g.88656281T>A	NCBI36
NG_016424.1:g.56929A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-202A>T
ENST00000682276.1:n.1482-202A>T
ENST00000682892.1:c.1584-202A>T	ENSP00000507214.1:n.1584-202A>T
ENST00000682952.1:n.1676-202A>T
ENST00000684455.1:c.1250-202A>T
ENST00000684642.1:c.1434-202A>T	ENSP00000507355.1:n.1434-202A>T
ENST00000684740.1:n.2215-202A>T
ENST00000303236.9:c.2037-202A>T MANE Select	ENSP00000307235.3:n.2037-202A>T
ENST00000652099.1:c.2231-202A>T
ENST00000652736.1:n.1913-202A>T
ENST00000303236.7:c.2037-202A>T	ENSP00000307235.3:n.2037-202A>T
ENST00000415570.1:c.1674-202A>T	ENSP00000412076.1:n.1674-202A>T
ENST00000419748.5:c.1584-202A>T	ENSP00000408325.1:n.1584-202A>T
ENST00000478003.1:n.603-202A>T
NM_001313915.1:c.1584-202A>T	NP_001300844.1:n.1584-202A>T
NM_004836.5:c.2037-202A>T	NP_004827.4:n.2037-202A>T
NM_004836.6:c.2037-202A>T	NP_004827.4:n.2037-202A>T
XM_005264649.3:c.1353-202A>T	XP_005264706.1:n.1353-202A>T
XR_939749.1:n.2316-202A>T
XM_017005376.2:c.1353-202A>T	XP_016860865.1:n.1353-202A>T
NM_004836.7:c.2037-202A>T MANE Select	NP_004827.4:n.2037-202A>T
NM_001313915.2:c.1584-202A>T	NP_001300844.1:n.1584-202A>T