Canonical Allele Identifier: CA1754517

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 3087867
• ClinVar RCV Id: RCV004377700
• dbSNP Id: rs770672534
• ExAC: 2:88874951 G / A
• gnomAD v2: 2-88874951-G-A
• MyVariant Identifiers: chr2:g.88874951G>A (hg19) ; chr2:g.88575433G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575433G>A , CM000664.2:g.88575433G>A	GRCh38
NC_000002.11:g.88874951G>A , CM000664.1:g.88874951G>A	GRCh37
NC_000002.10:g.88656066G>A	NCBI36
NG_016424.1:g.57144C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1878C>T
ENST00000682276.1:n.1495C>T
ENST00000682892.1:c.1597C>T	ENSP00000507214.1:p.Leu533Phe
ENST00000682952.1:n.1689C>T
ENST00000684455.1:c.1263C>T
ENST00000684642.1:c.1447C>T	ENSP00000507355.1:p.Leu483Phe
ENST00000684740.1:n.2228C>T
ENST00000303236.9:c.2050C>T MANE Select	ENSP00000307235.3:p.Leu684Phe
ENST00000652099.1:c.2244C>T
ENST00000652736.1:n.1926C>T
ENST00000303236.7:c.2050C>T	ENSP00000307235.3:p.Leu684Phe
ENST00000415570.1:c.1687C>T	ENSP00000412076.1:p.Leu563Phe
ENST00000419748.5:c.1597C>T	ENSP00000408325.1:p.Leu533Phe
ENST00000478003.1:n.616C>T
NM_001313915.1:c.1597C>T	NP_001300844.1:p.Leu533Phe
NM_004836.5:c.2050C>T	NP_004827.4:p.Leu684Phe
NM_004836.6:c.2050C>T	NP_004827.4:p.Leu684Phe
NR_110236.1:n.1570G>A
XM_005264649.3:c.1366C>T	XP_005264706.1:p.Leu456Phe
XR_939749.1:n.2329C>T
XM_017005376.2:c.1366C>T	XP_016860865.1:p.Leu456Phe
NM_004836.7:c.2050C>T MANE Select	NP_004827.4:p.Leu684Phe
NM_001313915.2:c.1597C>T	NP_001300844.1:p.Leu533Phe