Canonical Allele Identifier: CA427445147

Gene: EIF2AK3

Linked Data

• COSMIC: COSM6192388 ; COSM6192389
• MyVariant Identifiers: chr2:g.88874637A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575119A>G , CM000664.2:g.88575119A>G	GRCh38
NC_000002.11:g.88874637A>G , CM000664.1:g.88874637A>G	GRCh37
NC_000002.10:g.88655752A>G	NCBI36
NG_016424.1:g.57458T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2192T>C
ENST00000682276.1:n.1809T>C
ENST00000682892.1:c.1911T>C	ENSP00000507214.1:p.Cys637=
ENST00000682952.1:n.2003T>C
ENST00000684455.1:c.1577T>C
ENST00000684642.1:c.1761T>C	ENSP00000507355.1:p.Cys587=
ENST00000684740.1:n.2542T>C
ENST00000303236.9:c.2364T>C MANE Select	ENSP00000307235.3:p.Cys788=
ENST00000652099.1:c.2558T>C
ENST00000652736.1:n.2240T>C
ENST00000303236.7:c.2364T>C	ENSP00000307235.3:p.Cys788=
ENST00000415570.1:c.2001T>C	ENSP00000412076.1:p.Cys667=
ENST00000419748.5:c.1911T>C	ENSP00000408325.1:p.Cys637=
ENST00000470706.1:n.49-42T>C
NM_001313915.1:c.1911T>C	NP_001300844.1:p.Cys637=
NM_004836.5:c.2364T>C	NP_004827.4:p.Cys788=
NM_004836.6:c.2364T>C	NP_004827.4:p.Cys788=
NR_110236.1:n.1256A>G
XM_005264649.3:c.1680T>C	XP_005264706.1:p.Cys560=
XM_017005376.2:c.1680T>C	XP_016860865.1:p.Cys560=
NM_004836.7:c.2364T>C MANE Select	NP_004827.4:p.Cys788=
NM_001313915.2:c.1911T>C	NP_001300844.1:p.Cys637=