Canonical Allele Identifier: CA347592288

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674425884
• MyVariant Identifiers: chr2:g.88874759G>T (hg19) ; chr2:g.88575241G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575241G>T , CM000664.2:g.88575241G>T	GRCh38
NC_000002.11:g.88874759G>T , CM000664.1:g.88874759G>T	GRCh37
NC_000002.10:g.88655874G>T	NCBI36
NG_016424.1:g.57336C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2070C>A
ENST00000682276.1:n.1687C>A
ENST00000682892.1:c.1789C>A	ENSP00000507214.1:p.His597Asn
ENST00000682952.1:n.1881C>A
ENST00000684455.1:c.1455C>A
ENST00000684642.1:c.1639C>A	ENSP00000507355.1:p.His547Asn
ENST00000684740.1:n.2420C>A
ENST00000303236.9:c.2242C>A MANE Select	ENSP00000307235.3:p.His748Asn
ENST00000652099.1:c.2436C>A
ENST00000652736.1:n.2118C>A
ENST00000303236.7:c.2242C>A	ENSP00000307235.3:p.His748Asn
ENST00000415570.1:c.1879C>A	ENSP00000412076.1:p.His627Asn
ENST00000419748.5:c.1789C>A	ENSP00000408325.1:p.His597Asn
ENST00000470706.1:n.48+120C>A
NM_001313915.1:c.1789C>A	NP_001300844.1:p.His597Asn
NM_004836.5:c.2242C>A	NP_004827.4:p.His748Asn
NM_004836.6:c.2242C>A	NP_004827.4:p.His748Asn
NR_110236.1:n.1378G>T
XM_005264649.3:c.1558C>A	XP_005264706.1:p.His520Asn
XM_017005376.2:c.1558C>A	XP_016860865.1:p.His520Asn
NM_004836.7:c.2242C>A MANE Select	NP_004827.4:p.His748Asn
NM_001313915.2:c.1789C>A	NP_001300844.1:p.His597Asn