Canonical Allele Identifier: CA347591358

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674419403
• MyVariant Identifiers: chr2:g.88874557T>C (hg19) ; chr2:g.88575039T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575039T>C , CM000664.2:g.88575039T>C	GRCh38
NC_000002.11:g.88874557T>C , CM000664.1:g.88874557T>C	GRCh37
NC_000002.10:g.88655672T>C	NCBI36
NG_016424.1:g.57538A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2272A>G
ENST00000682276.1:n.1889A>G
ENST00000682892.1:c.1991A>G	ENSP00000507214.1:p.Asn664Ser
ENST00000682952.1:n.2083A>G
ENST00000684455.1:c.1657A>G
ENST00000684642.1:c.1841A>G	ENSP00000507355.1:p.Asn614Ser
ENST00000684740.1:n.2622A>G
ENST00000303236.9:c.2444A>G MANE Select	ENSP00000307235.3:p.Asn815Ser
ENST00000652099.1:c.2638A>G
ENST00000652736.1:n.2320A>G
ENST00000303236.7:c.2444A>G	ENSP00000307235.3:p.Asn815Ser
ENST00000415570.1:c.2081A>G	ENSP00000412076.1:p.Asn694Ser
ENST00000419748.5:c.1991A>G	ENSP00000408325.1:p.Asn664Ser
ENST00000470706.1:n.87A>G
NM_001313915.1:c.1991A>G	NP_001300844.1:p.Asn664Ser
NM_004836.5:c.2444A>G	NP_004827.4:p.Asn815Ser
NM_004836.6:c.2444A>G	NP_004827.4:p.Asn815Ser
NR_110236.1:n.1176T>C
XM_005264649.3:c.1760A>G	XP_005264706.1:p.Asn587Ser
XM_017005376.2:c.1760A>G	XP_016860865.1:p.Asn587Ser
NM_004836.7:c.2444A>G MANE Select	NP_004827.4:p.Asn815Ser
NM_001313915.2:c.1991A>G	NP_001300844.1:p.Asn664Ser