Canonical Allele Identifier: CA427174312

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88890100G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590582G>C , CM000664.2:g.88590582G>C	GRCh38
NC_000002.11:g.88890100G>C , CM000664.1:g.88890100G>C	GRCh37
NC_000002.10:g.88671215G>C	NCBI36
NG_016424.1:g.41995C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681996.1:n.2217C>G
ENST00000682276.1:n.481C>G
ENST00000682892.1:c.573C>G	ENSP00000507214.1:p.Ala191=
ENST00000682952.1:n.665C>G
ENST00000684455.1:c.239C>G
ENST00000684642.1:c.423C>G	ENSP00000507355.1:p.Ala141=
ENST00000303236.9:c.1026C>G MANE Select	ENSP00000307235.3:p.Ala342=
ENST00000652099.1:c.1220C>G
ENST00000652736.1:n.902C>G
ENST00000303236.7:c.1026C>G	ENSP00000307235.3:p.Ala342=
ENST00000415570.1:c.663C>G	ENSP00000412076.1:p.Ala221=
ENST00000419748.5:c.573C>G	ENSP00000408325.1:p.Ala191=
NM_001313915.1:c.573C>G	NP_001300844.1:p.Ala191=
NM_004836.5:c.1026C>G	NP_004827.4:p.Ala342=
NM_004836.6:c.1026C>G	NP_004827.4:p.Ala342=
XM_005264649.3:c.342C>G	XP_005264706.1:p.Ala114=
XR_939749.1:n.1235C>G
XM_017005376.2:c.342C>G	XP_016860865.1:p.Ala114=
NM_004836.7:c.1026C>G MANE Select	NP_004827.4:p.Ala342=
NM_001313915.2:c.573C>G	NP_001300844.1:p.Ala191=