Canonical Allele Identifier: CA51963296

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs537491340
• gnomAD v3: 2-88625141-C-T
• gnomAD v4: 2-88625141-C-T
• MyVariant Identifiers: chr2:g.88924659C>T (hg19) ; chr2:g.88625141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88625141C>T , CM000664.2:g.88625141C>T	GRCh38
NC_000002.11:g.88924659C>T , CM000664.1:g.88924659C>T	GRCh37
NC_000002.10:g.88705774C>T	NCBI36
NG_016424.1:g.7436G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682892.1:c.-145-11288G>A	ENSP00000507214.1:n.-145-11288G>A
ENST00000303236.9:c.308+1826G>A MANE Select	ENSP00000307235.3:n.308+1826G>A
ENST00000652099.1:c.306+1826G>A
ENST00000652423.1:c.184+1826G>A	ENSP00000498948.1:n.184+1826G>A
ENST00000303236.7:c.308+1826G>A	ENSP00000307235.3:n.308+1826G>A
NM_004836.5:c.308+1826G>A	NP_004827.4:n.308+1826G>A
NM_004836.6:c.308+1826G>A	NP_004827.4:n.308+1826G>A
XR_939749.1:n.517+1826G>A
XM_017005376.2:c.-573+1826G>A	XP_016860865.1:n.-573+1826G>A
NM_004836.7:c.308+1826G>A MANE Select	NP_004827.4:n.308+1826G>A