Canonical Allele Identifier: CA347593946

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88882951G>C (hg19) ; chr2:g.88583433G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583433G>C , CM000664.2:g.88583433G>C	GRCh38
NC_000002.11:g.88882951G>C , CM000664.1:g.88882951G>C	GRCh37
NC_000002.10:g.88664066G>C	NCBI36
NG_016424.1:g.49144C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1205C>G
ENST00000682892.1:c.1307C>G	ENSP00000507214.1:p.Ser436Ter
ENST00000682952.1:n.1399C>G
ENST00000684455.1:c.973C>G
ENST00000684642.1:c.1157C>G	ENSP00000507355.1:p.Ser386Ter
ENST00000303236.9:c.1760C>G MANE Select	ENSP00000307235.3:p.Ser587Ter
ENST00000652099.1:c.1954C>G
ENST00000652736.1:n.1636C>G
ENST00000303236.7:c.1760C>G	ENSP00000307235.3:p.Ser587Ter
ENST00000415570.1:c.1397C>G	ENSP00000412076.1:p.Ser466Ter
ENST00000419748.5:c.1307C>G	ENSP00000408325.1:p.Ser436Ter
NM_001313915.1:c.1307C>G	NP_001300844.1:p.Ser436Ter
NM_004836.5:c.1760C>G	NP_004827.4:p.Ser587Ter
NM_004836.6:c.1760C>G	NP_004827.4:p.Ser587Ter
XM_005264649.3:c.1076C>G	XP_005264706.1:p.Ser359Ter
XR_939749.1:n.1969C>G
XM_017005376.2:c.1076C>G	XP_016860865.1:p.Ser359Ter
NM_004836.7:c.1760C>G MANE Select	NP_004827.4:p.Ser587Ter
NM_001313915.2:c.1307C>G	NP_001300844.1:p.Ser436Ter