Canonical Allele Identifier: CA350569035

Gene: CNOT9

Linked Data

• dbSNP Id: rs1184159389
• gnomAD v2: 2-219449357-A-G
• gnomAD v4: 2-218584634-A-G
• MyVariant Identifiers: chr2:g.219449357A>G (hg19) ; chr2:g.218584634A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218584634A>G , CM000664.2:g.218584634A>G	GRCh38
NC_000002.11:g.219449357A>G , CM000664.1:g.219449357A>G	GRCh37
NC_000002.10:g.219157601A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273064.11:c.343A>G MANE Select	ENSP00000273064.6:p.Ile115Val
ENST00000273064.10:c.343A>G	ENSP00000273064.6:p.Ile115Val
ENST00000295701.9:c.343A>G	ENSP00000295701.5:p.Ile115Val
ENST00000432877.5:c.*235A>G	ENSP00000392394.1:n.*235A>G
ENST00000542068.5:c.343A>G	ENSP00000443687.1:p.Ile115Val
ENST00000627282.2:c.343A>G	ENSP00000486540.1:p.Ile115Val
NM_001271634.1:c.343A>G	NP_001258563.1:p.Ile115Val
NM_001271635.1:c.343A>G	NP_001258564.1:p.Ile115Val
NM_005444.2:c.343A>G	NP_005435.1:p.Ile115Val
NR_073390.1:n.695+1548A>G
XM_011512138.1:c.184A>G	XP_011510440.1:p.Ile62Val
XM_011512138.3:c.184A>G	XP_011510440.1:p.Ile62Val
XM_017005248.1:c.181A>G	XP_016860737.1:p.Ile61Val
XM_017005249.2:c.184A>G	XP_016860738.1:p.Ile62Val
NM_001271634.2:c.343A>G	NP_001258563.1:p.Ile115Val
NM_005444.3:c.343A>G MANE Select	NP_005435.1:p.Ile115Val
NR_073390.2:n.436+1548A>G
NM_001271635.2:c.343A>G	NP_001258564.1:p.Ile115Val