Canonical Allele Identifier: CA347592115

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575207-T-C
• MyVariant Identifiers: chr2:g.88874725T>C (hg19) ; chr2:g.88575207T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575207T>C , CM000664.2:g.88575207T>C	GRCh38
NC_000002.11:g.88874725T>C , CM000664.1:g.88874725T>C	GRCh37
NC_000002.10:g.88655840T>C	NCBI36
NG_016424.1:g.57370A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2104A>G
ENST00000682276.1:n.1721A>G
ENST00000682892.1:c.1823A>G	ENSP00000507214.1:p.Tyr608Cys
ENST00000682952.1:n.1915A>G
ENST00000684455.1:c.1489A>G
ENST00000684642.1:c.1673A>G	ENSP00000507355.1:p.Tyr558Cys
ENST00000684740.1:n.2454A>G
ENST00000303236.9:c.2276A>G MANE Select	ENSP00000307235.3:p.Tyr759Cys
ENST00000652099.1:c.2470A>G
ENST00000652736.1:n.2152A>G
ENST00000303236.7:c.2276A>G	ENSP00000307235.3:p.Tyr759Cys
ENST00000415570.1:c.1913A>G	ENSP00000412076.1:p.Tyr638Cys
ENST00000419748.5:c.1823A>G	ENSP00000408325.1:p.Tyr608Cys
ENST00000470706.1:n.49-130A>G
NM_001313915.1:c.1823A>G	NP_001300844.1:p.Tyr608Cys
NM_004836.5:c.2276A>G	NP_004827.4:p.Tyr759Cys
NM_004836.6:c.2276A>G	NP_004827.4:p.Tyr759Cys
NR_110236.1:n.1344T>C
XM_005264649.3:c.1592A>G	XP_005264706.1:p.Tyr531Cys
XM_017005376.2:c.1592A>G	XP_016860865.1:p.Tyr531Cys
NM_004836.7:c.2276A>G MANE Select	NP_004827.4:p.Tyr759Cys
NM_001313915.2:c.1823A>G	NP_001300844.1:p.Tyr608Cys