Canonical Allele Identifier: CA347591595

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1255608073
• MyVariant Identifiers: chr2:g.88874608G>C (hg19) ; chr2:g.88575090G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575090G>C , CM000664.2:g.88575090G>C	GRCh38
NC_000002.11:g.88874608G>C , CM000664.1:g.88874608G>C	GRCh37
NC_000002.10:g.88655723G>C	NCBI36
NG_016424.1:g.57487C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2221C>G
ENST00000682276.1:n.1838C>G
ENST00000682892.1:c.1940C>G	ENSP00000507214.1:p.Ser647Ter
ENST00000682952.1:n.2032C>G
ENST00000684455.1:c.1606C>G
ENST00000684642.1:c.1790C>G	ENSP00000507355.1:p.Ser597Ter
ENST00000684740.1:n.2571C>G
ENST00000303236.9:c.2393C>G MANE Select	ENSP00000307235.3:p.Ser798Ter
ENST00000652099.1:c.2587C>G
ENST00000652736.1:n.2269C>G
ENST00000303236.7:c.2393C>G	ENSP00000307235.3:p.Ser798Ter
ENST00000415570.1:c.2030C>G	ENSP00000412076.1:p.Ser677Ter
ENST00000419748.5:c.1940C>G	ENSP00000408325.1:p.Ser647Ter
ENST00000470706.1:n.49-13C>G
NM_001313915.1:c.1940C>G	NP_001300844.1:p.Ser647Ter
NM_004836.5:c.2393C>G	NP_004827.4:p.Ser798Ter
NM_004836.6:c.2393C>G	NP_004827.4:p.Ser798Ter
NR_110236.1:n.1227G>C
XM_005264649.3:c.1709C>G	XP_005264706.1:p.Ser570Ter
XM_017005376.2:c.1709C>G	XP_016860865.1:p.Ser570Ter
NM_004836.7:c.2393C>G MANE Select	NP_004827.4:p.Ser798Ter
NM_001313915.2:c.1940C>G	NP_001300844.1:p.Ser647Ter