Canonical Allele Identifier: CA51963290

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1023849506
• gnomAD v3: 2-88625124-G-A
• gnomAD v4: 2-88625124-G-A
• MyVariant Identifiers: chr2:g.88924642G>A (hg19) ; chr2:g.88625124G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88625124G>A , CM000664.2:g.88625124G>A	GRCh38
NC_000002.11:g.88924642G>A , CM000664.1:g.88924642G>A	GRCh37
NC_000002.10:g.88705757G>A	NCBI36
NG_016424.1:g.7453C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682892.1:c.-145-11271C>T	ENSP00000507214.1:n.-145-11271C>T
ENST00000303236.9:c.308+1843C>T MANE Select	ENSP00000307235.3:n.308+1843C>T
ENST00000652099.1:c.306+1843C>T
ENST00000652423.1:c.184+1843C>T	ENSP00000498948.1:n.184+1843C>T
ENST00000303236.7:c.308+1843C>T	ENSP00000307235.3:n.308+1843C>T
NM_004836.5:c.308+1843C>T	NP_004827.4:n.308+1843C>T
NM_004836.6:c.308+1843C>T	NP_004827.4:n.308+1843C>T
XR_939749.1:n.517+1843C>T
XM_017005376.2:c.-573+1843C>T	XP_016860865.1:n.-573+1843C>T
NM_004836.7:c.308+1843C>T MANE Select	NP_004827.4:n.308+1843C>T