Canonical Allele Identifier: CA1754460

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs751553557
• ExAC: 2:88874664 A / T
• gnomAD v2: 2-88874664-A-T
• MyVariant Identifiers: chr2:g.88874664A>T (hg19) ; chr2:g.88575146A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575146A>T , CM000664.2:g.88575146A>T	GRCh38
NC_000002.11:g.88874664A>T , CM000664.1:g.88874664A>T	GRCh37
NC_000002.10:g.88655779A>T	NCBI36
NG_016424.1:g.57431T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2165T>A
ENST00000682276.1:n.1782T>A
ENST00000682892.1:c.1884T>A	ENSP00000507214.1:p.Asn628Lys
ENST00000682952.1:n.1976T>A
ENST00000684455.1:c.1550T>A
ENST00000684642.1:c.1734T>A	ENSP00000507355.1:p.Asn578Lys
ENST00000684740.1:n.2515T>A
ENST00000303236.9:c.2337T>A MANE Select	ENSP00000307235.3:p.Asn779Lys
ENST00000652099.1:c.2531T>A
ENST00000652736.1:n.2213T>A
ENST00000303236.7:c.2337T>A	ENSP00000307235.3:p.Asn779Lys
ENST00000415570.1:c.1974T>A	ENSP00000412076.1:p.Asn658Lys
ENST00000419748.5:c.1884T>A	ENSP00000408325.1:p.Asn628Lys
ENST00000470706.1:n.49-69T>A
NM_001313915.1:c.1884T>A	NP_001300844.1:p.Asn628Lys
NM_004836.5:c.2337T>A	NP_004827.4:p.Asn779Lys
NM_004836.6:c.2337T>A	NP_004827.4:p.Asn779Lys
NR_110236.1:n.1283A>T
XM_005264649.3:c.1653T>A	XP_005264706.1:p.Asn551Lys
XM_017005376.2:c.1653T>A	XP_016860865.1:p.Asn551Lys
NM_004836.7:c.2337T>A MANE Select	NP_004827.4:p.Asn779Lys
NM_001313915.2:c.1884T>A	NP_001300844.1:p.Asn628Lys