Canonical Allele Identifier: CA347592030

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874708A>T (hg19) ; chr2:g.88575190A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575190A>T , CM000664.2:g.88575190A>T	GRCh38
NC_000002.11:g.88874708A>T , CM000664.1:g.88874708A>T	GRCh37
NC_000002.10:g.88655823A>T	NCBI36
NG_016424.1:g.57387T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2121T>A
ENST00000682276.1:n.1738T>A
ENST00000682892.1:c.1840T>A	ENSP00000507214.1:p.Cys614Ser
ENST00000682952.1:n.1932T>A
ENST00000684455.1:c.1506T>A
ENST00000684642.1:c.1690T>A	ENSP00000507355.1:p.Cys564Ser
ENST00000684740.1:n.2471T>A
ENST00000303236.9:c.2293T>A MANE Select	ENSP00000307235.3:p.Cys765Ser
ENST00000652099.1:c.2487T>A
ENST00000652736.1:n.2169T>A
ENST00000303236.7:c.2293T>A	ENSP00000307235.3:p.Cys765Ser
ENST00000415570.1:c.1930T>A	ENSP00000412076.1:p.Cys644Ser
ENST00000419748.5:c.1840T>A	ENSP00000408325.1:p.Cys614Ser
ENST00000470706.1:n.49-113T>A
NM_001313915.1:c.1840T>A	NP_001300844.1:p.Cys614Ser
NM_004836.5:c.2293T>A	NP_004827.4:p.Cys765Ser
NM_004836.6:c.2293T>A	NP_004827.4:p.Cys765Ser
NR_110236.1:n.1327A>T
XM_005264649.3:c.1609T>A	XP_005264706.1:p.Cys537Ser
XM_017005376.2:c.1609T>A	XP_016860865.1:p.Cys537Ser
NM_004836.7:c.2293T>A MANE Select	NP_004827.4:p.Cys765Ser
NM_001313915.2:c.1840T>A	NP_001300844.1:p.Cys614Ser