Canonical Allele Identifier: CA427173495

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs2104412438
• gnomAD v4: 2-88575536-G-A
• MyVariant Identifiers: chr2:g.88875054G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575536G>A , CM000664.2:g.88575536G>A	GRCh38
NC_000002.11:g.88875054G>A , CM000664.1:g.88875054G>A	GRCh37
NC_000002.10:g.88656169G>A	NCBI36
NG_016424.1:g.57041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-90C>T
ENST00000682276.1:n.1482-90C>T
ENST00000682892.1:c.1584-90C>T	ENSP00000507214.1:n.1584-90C>T
ENST00000682952.1:n.1676-90C>T
ENST00000684455.1:c.1250-90C>T
ENST00000684642.1:c.1434-90C>T	ENSP00000507355.1:n.1434-90C>T
ENST00000684740.1:n.2215-90C>T
ENST00000303236.9:c.2037-90C>T MANE Select	ENSP00000307235.3:n.2037-90C>T
ENST00000652099.1:c.2231-90C>T
ENST00000652736.1:n.1913-90C>T
ENST00000303236.7:c.2037-90C>T	ENSP00000307235.3:n.2037-90C>T
ENST00000415570.1:c.1674-90C>T	ENSP00000412076.1:n.1674-90C>T
ENST00000419748.5:c.1584-90C>T	ENSP00000408325.1:n.1584-90C>T
ENST00000478003.1:n.603-90C>T
NM_001313915.1:c.1584-90C>T	NP_001300844.1:n.1584-90C>T
NM_004836.5:c.2037-90C>T	NP_004827.4:n.2037-90C>T
NM_004836.6:c.2037-90C>T	NP_004827.4:n.2037-90C>T
NR_110236.1:n.1673G>A
XM_005264649.3:c.1353-90C>T	XP_005264706.1:n.1353-90C>T
XR_939749.1:n.2316-90C>T
XM_017005376.2:c.1353-90C>T	XP_016860865.1:n.1353-90C>T
NM_004836.7:c.2037-90C>T MANE Select	NP_004827.4:n.2037-90C>T
NM_001313915.2:c.1584-90C>T	NP_001300844.1:n.1584-90C>T