Canonical Allele Identifier: CA347592900

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874896G>T (hg19) ; chr2:g.88575378G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575378G>T , CM000664.2:g.88575378G>T	GRCh38
NC_000002.11:g.88874896G>T , CM000664.1:g.88874896G>T	GRCh37
NC_000002.10:g.88656011G>T	NCBI36
NG_016424.1:g.57199C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1933C>A
ENST00000682276.1:n.1550C>A
ENST00000682892.1:c.1652C>A	ENSP00000507214.1:p.Pro551His
ENST00000682952.1:n.1744C>A
ENST00000684455.1:c.1318C>A
ENST00000684642.1:c.1502C>A	ENSP00000507355.1:p.Pro501His
ENST00000684740.1:n.2283C>A
ENST00000303236.9:c.2105C>A MANE Select	ENSP00000307235.3:p.Pro702His
ENST00000652099.1:c.2299C>A
ENST00000652736.1:n.1981C>A
ENST00000303236.7:c.2105C>A	ENSP00000307235.3:p.Pro702His
ENST00000415570.1:c.1742C>A	ENSP00000412076.1:p.Pro581His
ENST00000419748.5:c.1652C>A	ENSP00000408325.1:p.Pro551His
ENST00000470706.1:n.31C>A
NM_001313915.1:c.1652C>A	NP_001300844.1:p.Pro551His
NM_004836.5:c.2105C>A	NP_004827.4:p.Pro702His
NM_004836.6:c.2105C>A	NP_004827.4:p.Pro702His
NR_110236.1:n.1515G>T
XM_005264649.3:c.1421C>A	XP_005264706.1:p.Pro474His
XR_939749.1:n.2384C>A
XM_017005376.2:c.1421C>A	XP_016860865.1:p.Pro474His
NM_004836.7:c.2105C>A MANE Select	NP_004827.4:p.Pro702His
NM_001313915.2:c.1652C>A	NP_001300844.1:p.Pro551His