Canonical Allele Identifier: CA347593019

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs770672534
• gnomAD v4: 2-88575433-G-T
• MyVariant Identifiers: chr2:g.88874951G>T (hg19) ; chr2:g.88575433G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1878C>A
ENST00000682276.1:n.1495C>A
ENST00000682892.1:c.1597C>A	ENSP00000507214.1:p.Leu533Ile
ENST00000682952.1:n.1689C>A
ENST00000684455.1:c.1263C>A
ENST00000684642.1:c.1447C>A	ENSP00000507355.1:p.Leu483Ile
ENST00000684740.1:n.2228C>A
ENST00000303236.9:c.2050C>A MANE Select	ENSP00000307235.3:p.Leu684Ile
ENST00000652099.1:c.2244C>A
ENST00000652736.1:n.1926C>A
ENST00000303236.7:c.2050C>A	ENSP00000307235.3:p.Leu684Ile
ENST00000415570.1:c.1687C>A	ENSP00000412076.1:p.Leu563Ile
ENST00000419748.5:c.1597C>A	ENSP00000408325.1:p.Leu533Ile
ENST00000478003.1:n.616C>A
NM_001313915.1:c.1597C>A	NP_001300844.1:p.Leu533Ile
NM_004836.5:c.2050C>A	NP_004827.4:p.Leu684Ile
NM_004836.6:c.2050C>A	NP_004827.4:p.Leu684Ile
NR_110236.1:n.1570G>T
XM_005264649.3:c.1366C>A	XP_005264706.1:p.Leu456Ile
XR_939749.1:n.2329C>A
XM_017005376.2:c.1366C>A	XP_016860865.1:p.Leu456Ile
NM_004836.7:c.2050C>A MANE Select	NP_004827.4:p.Leu684Ile
NM_001313915.2:c.1597C>A	NP_001300844.1:p.Leu533Ile