Canonical Allele Identifier: CA347591542

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1328430364
• gnomAD v2: 2-88874596-G-C
• gnomAD v4: 2-88575078-G-C
• MyVariant Identifiers: chr2:g.88874596G>C (hg19) ; chr2:g.88575078G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575078G>C , CM000664.2:g.88575078G>C	GRCh38
NC_000002.11:g.88874596G>C , CM000664.1:g.88874596G>C	GRCh37
NC_000002.10:g.88655711G>C	NCBI36
NG_016424.1:g.57499C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2233C>G
ENST00000682276.1:n.1850C>G
ENST00000682892.1:c.1952C>G	ENSP00000507214.1:p.Thr651Ser
ENST00000682952.1:n.2044C>G
ENST00000684455.1:c.1618C>G
ENST00000684642.1:c.1802C>G	ENSP00000507355.1:p.Thr601Ser
ENST00000684740.1:n.2583C>G
ENST00000303236.9:c.2405C>G MANE Select	ENSP00000307235.3:p.Thr802Ser
ENST00000652099.1:c.2599C>G
ENST00000652736.1:n.2281C>G
ENST00000303236.7:c.2405C>G	ENSP00000307235.3:p.Thr802Ser
ENST00000415570.1:c.2042C>G	ENSP00000412076.1:p.Thr681Ser
ENST00000419748.5:c.1952C>G	ENSP00000408325.1:p.Thr651Ser
ENST00000470706.1:n.49-1C>G
NM_001313915.1:c.1952C>G	NP_001300844.1:p.Thr651Ser
NM_004836.5:c.2405C>G	NP_004827.4:p.Thr802Ser
NM_004836.6:c.2405C>G	NP_004827.4:p.Thr802Ser
NR_110236.1:n.1215G>C
XM_005264649.3:c.1721C>G	XP_005264706.1:p.Thr574Ser
XM_017005376.2:c.1721C>G	XP_016860865.1:p.Thr574Ser
NM_004836.7:c.2405C>G MANE Select	NP_004827.4:p.Thr802Ser
NM_001313915.2:c.1952C>G	NP_001300844.1:p.Thr651Ser