Canonical Allele Identifier: CA427173215

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874916A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575398A>C , CM000664.2:g.88575398A>C	GRCh38
NC_000002.11:g.88874916A>C , CM000664.1:g.88874916A>C	GRCh37
NC_000002.10:g.88656031A>C	NCBI36
NG_016424.1:g.57179T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1913T>G
ENST00000682276.1:n.1530T>G
ENST00000682892.1:c.1632T>G	ENSP00000507214.1:p.Val544=
ENST00000682952.1:n.1724T>G
ENST00000684455.1:c.1298T>G
ENST00000684642.1:c.1482T>G	ENSP00000507355.1:p.Val494=
ENST00000684740.1:n.2263T>G
ENST00000303236.9:c.2085T>G MANE Select	ENSP00000307235.3:p.Val695=
ENST00000652099.1:c.2279T>G
ENST00000652736.1:n.1961T>G
ENST00000303236.7:c.2085T>G	ENSP00000307235.3:p.Val695=
ENST00000415570.1:c.1722T>G	ENSP00000412076.1:p.Val574=
ENST00000419748.5:c.1632T>G	ENSP00000408325.1:p.Val544=
ENST00000470706.1:n.11T>G
ENST00000478003.1:n.651T>G
NM_001313915.1:c.1632T>G	NP_001300844.1:p.Val544=
NM_004836.5:c.2085T>G	NP_004827.4:p.Val695=
NM_004836.6:c.2085T>G	NP_004827.4:p.Val695=
NR_110236.1:n.1535A>C
XM_005264649.3:c.1401T>G	XP_005264706.1:p.Val467=
XR_939749.1:n.2364T>G
XM_017005376.2:c.1401T>G	XP_016860865.1:p.Val467=
NM_004836.7:c.2085T>G MANE Select	NP_004827.4:p.Val695=
NM_001313915.2:c.1632T>G	NP_001300844.1:p.Val544=