Canonical Allele Identifier: CA347592487

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575286-A-G
• MyVariant Identifiers: chr2:g.88874804A>G (hg19) ; chr2:g.88575286A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575286A>G , CM000664.2:g.88575286A>G	GRCh38
NC_000002.11:g.88874804A>G , CM000664.1:g.88874804A>G	GRCh37
NC_000002.10:g.88655919A>G	NCBI36
NG_016424.1:g.57291T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2025T>C
ENST00000682276.1:n.1642T>C
ENST00000682892.1:c.1744T>C	ENSP00000507214.1:p.Ser582Pro
ENST00000682952.1:n.1836T>C
ENST00000684455.1:c.1410T>C
ENST00000684642.1:c.1594T>C	ENSP00000507355.1:p.Ser532Pro
ENST00000684740.1:n.2375T>C
ENST00000303236.9:c.2197T>C MANE Select	ENSP00000307235.3:p.Ser733Pro
ENST00000652099.1:c.2391T>C
ENST00000652736.1:n.2073T>C
ENST00000303236.7:c.2197T>C	ENSP00000307235.3:p.Ser733Pro
ENST00000415570.1:c.1834T>C	ENSP00000412076.1:p.Ser612Pro
ENST00000419748.5:c.1744T>C	ENSP00000408325.1:p.Ser582Pro
ENST00000470706.1:n.48+75T>C
NM_001313915.1:c.1744T>C	NP_001300844.1:p.Ser582Pro
NM_004836.5:c.2197T>C	NP_004827.4:p.Ser733Pro
NM_004836.6:c.2197T>C	NP_004827.4:p.Ser733Pro
NR_110236.1:n.1423A>G
XM_005264649.3:c.1513T>C	XP_005264706.1:p.Ser505Pro
XR_939749.1:n.2476T>C
XM_017005376.2:c.1513T>C	XP_016860865.1:p.Ser505Pro
NM_004836.7:c.2197T>C MANE Select	NP_004827.4:p.Ser733Pro
NM_001313915.2:c.1744T>C	NP_001300844.1:p.Ser582Pro