Canonical Allele Identifier: CA347592000

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs758572014
• gnomAD v2: 2-88874701-G-C
• gnomAD v4: 2-88575183-G-C
• MyVariant Identifiers: chr2:g.88874701G>C (hg19) ; chr2:g.88575183G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575183G>C , CM000664.2:g.88575183G>C	GRCh38
NC_000002.11:g.88874701G>C , CM000664.1:g.88874701G>C	GRCh37
NC_000002.10:g.88655816G>C	NCBI36
NG_016424.1:g.57394C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2128C>G
ENST00000682276.1:n.1745C>G
ENST00000682892.1:c.1847C>G	ENSP00000507214.1:p.Thr616Arg
ENST00000682952.1:n.1939C>G
ENST00000684455.1:c.1513C>G
ENST00000684642.1:c.1697C>G	ENSP00000507355.1:p.Thr566Arg
ENST00000684740.1:n.2478C>G
ENST00000303236.9:c.2300C>G MANE Select	ENSP00000307235.3:p.Thr767Arg
ENST00000652099.1:c.2494C>G
ENST00000652736.1:n.2176C>G
ENST00000303236.7:c.2300C>G	ENSP00000307235.3:p.Thr767Arg
ENST00000415570.1:c.1937C>G	ENSP00000412076.1:p.Thr646Arg
ENST00000419748.5:c.1847C>G	ENSP00000408325.1:p.Thr616Arg
ENST00000470706.1:n.49-106C>G
NM_001313915.1:c.1847C>G	NP_001300844.1:p.Thr616Arg
NM_004836.5:c.2300C>G	NP_004827.4:p.Thr767Arg
NM_004836.6:c.2300C>G	NP_004827.4:p.Thr767Arg
NR_110236.1:n.1320G>C
XM_005264649.3:c.1616C>G	XP_005264706.1:p.Thr539Arg
XM_017005376.2:c.1616C>G	XP_016860865.1:p.Thr539Arg
NM_004836.7:c.2300C>G MANE Select	NP_004827.4:p.Thr767Arg
NM_001313915.2:c.1847C>G	NP_001300844.1:p.Thr616Arg