Canonical Allele Identifier: CA347592385

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874782G>A (hg19) ; chr2:g.88575264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575264G>A , CM000664.2:g.88575264G>A	GRCh38
NC_000002.11:g.88874782G>A , CM000664.1:g.88874782G>A	GRCh37
NC_000002.10:g.88655897G>A	NCBI36
NG_016424.1:g.57313C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2047C>T
ENST00000682276.1:n.1664C>T
ENST00000682892.1:c.1766C>T	ENSP00000507214.1:p.Pro589Leu
ENST00000682952.1:n.1858C>T
ENST00000684455.1:c.1432C>T
ENST00000684642.1:c.1616C>T	ENSP00000507355.1:p.Pro539Leu
ENST00000684740.1:n.2397C>T
ENST00000303236.9:c.2219C>T MANE Select	ENSP00000307235.3:p.Pro740Leu
ENST00000652099.1:c.2413C>T
ENST00000652736.1:n.2095C>T
ENST00000303236.7:c.2219C>T	ENSP00000307235.3:p.Pro740Leu
ENST00000415570.1:c.1856C>T	ENSP00000412076.1:p.Pro619Leu
ENST00000419748.5:c.1766C>T	ENSP00000408325.1:p.Pro589Leu
ENST00000470706.1:n.48+97C>T
NM_001313915.1:c.1766C>T	NP_001300844.1:p.Pro589Leu
NM_004836.5:c.2219C>T	NP_004827.4:p.Pro740Leu
NM_004836.6:c.2219C>T	NP_004827.4:p.Pro740Leu
NR_110236.1:n.1401G>A
XM_005264649.3:c.1535C>T	XP_005264706.1:p.Pro512Leu
XR_939749.1:n.2498C>T
XM_017005376.2:c.1535C>T	XP_016860865.1:p.Pro512Leu
NM_004836.7:c.2219C>T MANE Select	NP_004827.4:p.Pro740Leu
NM_001313915.2:c.1766C>T	NP_001300844.1:p.Pro589Leu