Canonical Allele Identifier: CA51963292

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1023046915
• gnomAD v3: 2-88625125-G-C
• gnomAD v4: 2-88625125-G-C
• MyVariant Identifiers: chr2:g.88924643G>C (hg19) ; chr2:g.88625125G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88625125G>C , CM000664.2:g.88625125G>C	GRCh38
NC_000002.11:g.88924643G>C , CM000664.1:g.88924643G>C	GRCh37
NC_000002.10:g.88705758G>C	NCBI36
NG_016424.1:g.7452C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682892.1:c.-145-11272C>G	ENSP00000507214.1:n.-145-11272C>G
ENST00000303236.9:c.308+1842C>G MANE Select	ENSP00000307235.3:n.308+1842C>G
ENST00000652099.1:c.306+1842C>G
ENST00000652423.1:c.184+1842C>G	ENSP00000498948.1:n.184+1842C>G
ENST00000303236.7:c.308+1842C>G	ENSP00000307235.3:n.308+1842C>G
NM_004836.5:c.308+1842C>G	NP_004827.4:n.308+1842C>G
NM_004836.6:c.308+1842C>G	NP_004827.4:n.308+1842C>G
XR_939749.1:n.517+1842C>G
XM_017005376.2:c.-573+1842C>G	XP_016860865.1:n.-573+1842C>G
NM_004836.7:c.308+1842C>G MANE Select	NP_004827.4:n.308+1842C>G