Canonical Allele Identifier: CA65777785

Gene: CNOT9

Linked Data

• dbSNP Id: rs1008307604
• gnomAD v2: 2-219447718-A-G
• gnomAD v3: 2-218582995-A-G
• gnomAD v4: 2-218582995-A-G
• MyVariant Identifiers: chr2:g.219447718A>G (hg19) ; chr2:g.218582995A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218582995A>G , CM000664.2:g.218582995A>G	GRCh38
NC_000002.11:g.219447718A>G , CM000664.1:g.219447718A>G	GRCh37
NC_000002.10:g.219155962A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273064.11:c.229A>G MANE Select	ENSP00000273064.6:p.Ile77Val
ENST00000273064.10:c.229A>G	ENSP00000273064.6:p.Ile77Val
ENST00000295701.9:c.229A>G	ENSP00000295701.5:p.Ile77Val
ENST00000432877.5:c.*121A>G	ENSP00000392394.1:n.*121A>G
ENST00000542068.5:c.229A>G	ENSP00000443687.1:p.Ile77Val
ENST00000627282.2:c.229A>G	ENSP00000486540.1:p.Ile77Val
NM_001271634.1:c.229A>G	NP_001258563.1:p.Ile77Val
NM_001271635.1:c.229A>G	NP_001258564.1:p.Ile77Val
NM_005444.2:c.229A>G	NP_005435.1:p.Ile77Val
NR_073390.1:n.604A>G
XM_011512138.1:c.70A>G	XP_011510440.1:p.Ile24Val
XM_011512138.3:c.70A>G	XP_011510440.1:p.Ile24Val
XM_017005248.1:c.67A>G	XP_016860737.1:p.Ile23Val
XM_017005249.2:c.70A>G	XP_016860738.1:p.Ile24Val
NM_001271634.2:c.229A>G	NP_001258563.1:p.Ile77Val
NM_005444.3:c.229A>G MANE Select	NP_005435.1:p.Ile77Val
NR_073390.2:n.345A>G
NM_001271635.2:c.229A>G	NP_001258564.1:p.Ile77Val