Canonical Allele Identifier: CA347591502

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2985061
• ClinVar RCV Id: RCV003848188
• dbSNP Id: rs1301049321
• MyVariant Identifiers: chr2:g.88874587G>A (hg19) ; chr2:g.88575069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575069G>A , CM000664.2:g.88575069G>A	GRCh38
NC_000002.11:g.88874587G>A , CM000664.1:g.88874587G>A	GRCh37
NC_000002.10:g.88655702G>A	NCBI36
NG_016424.1:g.57508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2242C>T
ENST00000682276.1:n.1859C>T
ENST00000682892.1:c.1961C>T	ENSP00000507214.1:p.Ser654Leu
ENST00000682952.1:n.2053C>T
ENST00000684455.1:c.1627C>T
ENST00000684642.1:c.1811C>T	ENSP00000507355.1:p.Ser604Leu
ENST00000684740.1:n.2592C>T
ENST00000303236.9:c.2414C>T MANE Select	ENSP00000307235.3:p.Ser805Leu
ENST00000652099.1:c.2608C>T
ENST00000652736.1:n.2290C>T
ENST00000303236.7:c.2414C>T	ENSP00000307235.3:p.Ser805Leu
ENST00000415570.1:c.2051C>T	ENSP00000412076.1:p.Ser684Leu
ENST00000419748.5:c.1961C>T	ENSP00000408325.1:p.Ser654Leu
ENST00000470706.1:n.57C>T
NM_001313915.1:c.1961C>T	NP_001300844.1:p.Ser654Leu
NM_004836.5:c.2414C>T	NP_004827.4:p.Ser805Leu
NM_004836.6:c.2414C>T	NP_004827.4:p.Ser805Leu
NR_110236.1:n.1206G>A
XM_005264649.3:c.1730C>T	XP_005264706.1:p.Ser577Leu
XM_017005376.2:c.1730C>T	XP_016860865.1:p.Ser577Leu
NM_004836.7:c.2414C>T MANE Select	NP_004827.4:p.Ser805Leu
NM_001313915.2:c.1961C>T	NP_001300844.1:p.Ser654Leu