Canonical Allele Identifier: CA894275474

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1417700211
• gnomAD v4: 2-88575655-T-C
• MyVariant Identifiers: chr2:g.88875173T>C (hg19) ; chr2:g.88575655T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575655T>C , CM000664.2:g.88575655T>C	GRCh38
NC_000002.11:g.88875173T>C , CM000664.1:g.88875173T>C	GRCh37
NC_000002.10:g.88656288T>C	NCBI36
NG_016424.1:g.56922A>G

Transcript Alleles

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