Canonical Allele Identifier: CA894243864

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1384236589
• MyVariant Identifiers: chr2:g.88924639T>G (hg19) ; chr2:g.88625121T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88625121T>G , CM000664.2:g.88625121T>G	GRCh38
NC_000002.11:g.88924639T>G , CM000664.1:g.88924639T>G	GRCh37
NC_000002.10:g.88705754T>G	NCBI36
NG_016424.1:g.7456A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682892.1:c.-145-11268A>C	ENSP00000507214.1:n.-145-11268A>C
ENST00000303236.9:c.308+1846A>C MANE Select	ENSP00000307235.3:n.308+1846A>C
ENST00000652099.1:c.306+1846A>C
ENST00000652423.1:c.184+1846A>C	ENSP00000498948.1:n.184+1846A>C
ENST00000303236.7:c.308+1846A>C	ENSP00000307235.3:n.308+1846A>C
NM_004836.5:c.308+1846A>C	NP_004827.4:n.308+1846A>C
NM_004836.6:c.308+1846A>C	NP_004827.4:n.308+1846A>C
XR_939749.1:n.517+1846A>C
XM_017005376.2:c.-573+1846A>C	XP_016860865.1:n.-573+1846A>C
NM_004836.7:c.308+1846A>C MANE Select	NP_004827.4:n.308+1846A>C