Canonical Allele Identifier: CA51963266

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs144949713
• gnomAD v2: 2-88924554-A-ACT
• gnomAD v3: 2-88625036-A-ACT
• gnomAD v4: 2-88625036-A-ACT
• MyVariant Identifiers: chr2:g.88924554_88924555insCT (hg19) ; chr2:g.88625036_88625037insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88625039_88625040dup , CM000664.2:g.88625039_88625040dup	GRCh38
NC_000002.11:g.88924557_88924558dup , CM000664.1:g.88924557_88924558dup	GRCh37
NC_000002.10:g.88705672_88705673dup	NCBI36
NG_016424.1:g.7539_7540dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682892.1:c.-145-11185_-145-11184dup	ENSP00000507214.1:n.-145-11185_-145-11184...
ENST00000303236.9:c.308+1929_308+1930dup MANE Select	ENSP00000307235.3:n.308+1929_308+1930dup
ENST00000652099.1:c.306+1929_306+1930dup
ENST00000652423.1:c.184+1929_184+1930dup	ENSP00000498948.1:n.184+1929_184+1930dup
ENST00000303236.7:c.308+1929_308+1930dup	ENSP00000307235.3:n.308+1929_308+1930dup
NM_004836.5:c.308+1929_308+1930dup	NP_004827.4:n.308+1929_308+1930dup
NM_004836.6:c.308+1929_308+1930dup	NP_004827.4:n.308+1929_308+1930dup
XR_939749.1:n.517+1929_517+1930dup
XM_017005376.2:c.-573+1929_-573+1930dup	XP_016860865.1:n.-573+1929_-573+1930dup
NM_004836.7:c.308+1929_308+1930dup MANE Select	NP_004827.4:n.308+1929_308+1930dup