Canonical Allele Identifier: CA347591666

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674420993
• MyVariant Identifiers: chr2:g.88874623G>A (hg19) ; chr2:g.88575105G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575105G>A , CM000664.2:g.88575105G>A	GRCh38
NC_000002.11:g.88874623G>A , CM000664.1:g.88874623G>A	GRCh37
NC_000002.10:g.88655738G>A	NCBI36
NG_016424.1:g.57472C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2206C>T
ENST00000682276.1:n.1823C>T
ENST00000682892.1:c.1925C>T	ENSP00000507214.1:p.Ser642Phe
ENST00000682952.1:n.2017C>T
ENST00000684455.1:c.1591C>T
ENST00000684642.1:c.1775C>T	ENSP00000507355.1:p.Ser592Phe
ENST00000684740.1:n.2556C>T
ENST00000303236.9:c.2378C>T MANE Select	ENSP00000307235.3:p.Ser793Phe
ENST00000652099.1:c.2572C>T
ENST00000652736.1:n.2254C>T
ENST00000303236.7:c.2378C>T	ENSP00000307235.3:p.Ser793Phe
ENST00000415570.1:c.2015C>T	ENSP00000412076.1:p.Ser672Phe
ENST00000419748.5:c.1925C>T	ENSP00000408325.1:p.Ser642Phe
ENST00000470706.1:n.49-28C>T
NM_001313915.1:c.1925C>T	NP_001300844.1:p.Ser642Phe
NM_004836.5:c.2378C>T	NP_004827.4:p.Ser793Phe
NM_004836.6:c.2378C>T	NP_004827.4:p.Ser793Phe
NR_110236.1:n.1242G>A
XM_005264649.3:c.1694C>T	XP_005264706.1:p.Ser565Phe
XM_017005376.2:c.1694C>T	XP_016860865.1:p.Ser565Phe
NM_004836.7:c.2378C>T MANE Select	NP_004827.4:p.Ser793Phe
NM_001313915.2:c.1925C>T	NP_001300844.1:p.Ser642Phe