Canonical Allele Identifier: CA347592347

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874772G>C (hg19) ; chr2:g.88575254G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575254G>C , CM000664.2:g.88575254G>C	GRCh38
NC_000002.11:g.88874772G>C , CM000664.1:g.88874772G>C	GRCh37
NC_000002.10:g.88655887G>C	NCBI36
NG_016424.1:g.57323C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2057C>G
ENST00000682276.1:n.1674C>G
ENST00000682892.1:c.1776C>G	ENSP00000507214.1:p.Phe592Leu
ENST00000682952.1:n.1868C>G
ENST00000684455.1:c.1442C>G
ENST00000684642.1:c.1626C>G	ENSP00000507355.1:p.Phe542Leu
ENST00000684740.1:n.2407C>G
ENST00000303236.9:c.2229C>G MANE Select	ENSP00000307235.3:p.Phe743Leu
ENST00000652099.1:c.2423C>G
ENST00000652736.1:n.2105C>G
ENST00000303236.7:c.2229C>G	ENSP00000307235.3:p.Phe743Leu
ENST00000415570.1:c.1866C>G	ENSP00000412076.1:p.Phe622Leu
ENST00000419748.5:c.1776C>G	ENSP00000408325.1:p.Phe592Leu
ENST00000470706.1:n.48+107C>G
NM_001313915.1:c.1776C>G	NP_001300844.1:p.Phe592Leu
NM_004836.5:c.2229C>G	NP_004827.4:p.Phe743Leu
NM_004836.6:c.2229C>G	NP_004827.4:p.Phe743Leu
NR_110236.1:n.1391G>C
XM_005264649.3:c.1545C>G	XP_005264706.1:p.Phe515Leu
XM_017005376.2:c.1545C>G	XP_016860865.1:p.Phe515Leu
NM_004836.7:c.2229C>G MANE Select	NP_004827.4:p.Phe743Leu
NM_001313915.2:c.1776C>G	NP_001300844.1:p.Phe592Leu