Canonical Allele Identifier: CA347592998

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575423-G-A
• MyVariant Identifiers: chr2:g.88874941G>A (hg19) ; chr2:g.88575423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575423G>A , CM000664.2:g.88575423G>A	GRCh38
NC_000002.11:g.88874941G>A , CM000664.1:g.88874941G>A	GRCh37
NC_000002.10:g.88656056G>A	NCBI36
NG_016424.1:g.57154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1888C>T
ENST00000682276.1:n.1505C>T
ENST00000682892.1:c.1607C>T	ENSP00000507214.1:p.Pro536Leu
ENST00000682952.1:n.1699C>T
ENST00000684455.1:c.1273C>T
ENST00000684642.1:c.1457C>T	ENSP00000507355.1:p.Pro486Leu
ENST00000684740.1:n.2238C>T
ENST00000303236.9:c.2060C>T MANE Select	ENSP00000307235.3:p.Pro687Leu
ENST00000652099.1:c.2254C>T
ENST00000652736.1:n.1936C>T
ENST00000303236.7:c.2060C>T	ENSP00000307235.3:p.Pro687Leu
ENST00000415570.1:c.1697C>T	ENSP00000412076.1:p.Pro566Leu
ENST00000419748.5:c.1607C>T	ENSP00000408325.1:p.Pro536Leu
ENST00000478003.1:n.626C>T
NM_001313915.1:c.1607C>T	NP_001300844.1:p.Pro536Leu
NM_004836.5:c.2060C>T	NP_004827.4:p.Pro687Leu
NM_004836.6:c.2060C>T	NP_004827.4:p.Pro687Leu
NR_110236.1:n.1560G>A
XM_005264649.3:c.1376C>T	XP_005264706.1:p.Pro459Leu
XR_939749.1:n.2339C>T
XM_017005376.2:c.1376C>T	XP_016860865.1:p.Pro459Leu
NM_004836.7:c.2060C>T MANE Select	NP_004827.4:p.Pro687Leu
NM_001313915.2:c.1607C>T	NP_001300844.1:p.Pro536Leu