Canonical Allele Identifier: CA347592117

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874725T>G (hg19) ; chr2:g.88575207T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2104A>C
ENST00000682276.1:n.1721A>C
ENST00000682892.1:c.1823A>C	ENSP00000507214.1:p.Tyr608Ser
ENST00000682952.1:n.1915A>C
ENST00000684455.1:c.1489A>C
ENST00000684642.1:c.1673A>C	ENSP00000507355.1:p.Tyr558Ser
ENST00000684740.1:n.2454A>C
ENST00000303236.9:c.2276A>C MANE Select	ENSP00000307235.3:p.Tyr759Ser
ENST00000652099.1:c.2470A>C
ENST00000652736.1:n.2152A>C
ENST00000303236.7:c.2276A>C	ENSP00000307235.3:p.Tyr759Ser
ENST00000415570.1:c.1913A>C	ENSP00000412076.1:p.Tyr638Ser
ENST00000419748.5:c.1823A>C	ENSP00000408325.1:p.Tyr608Ser
ENST00000470706.1:n.49-130A>C
NM_001313915.1:c.1823A>C	NP_001300844.1:p.Tyr608Ser
NM_004836.5:c.2276A>C	NP_004827.4:p.Tyr759Ser
NM_004836.6:c.2276A>C	NP_004827.4:p.Tyr759Ser
NR_110236.1:n.1344T>G
XM_005264649.3:c.1592A>C	XP_005264706.1:p.Tyr531Ser
XM_017005376.2:c.1592A>C	XP_016860865.1:p.Tyr531Ser
NM_004836.7:c.2276A>C MANE Select	NP_004827.4:p.Tyr759Ser
NM_001313915.2:c.1823A>C	NP_001300844.1:p.Tyr608Ser