Canonical Allele Identifier: CA239426678
Gene: CNOT2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.70329504C>T , CM000674.2:g.70329504C>T GRCh38
NC_000012.11:g.70723284C>T , CM000674.1:g.70723284C>T GRCh37
NC_000012.10:g.69009551C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000229195.8:c.320C>T MANE Select ENSP00000229195.3:p.Pro107Leu
ENST00000550641.6:c.260C>T ENSP00000448024.2:p.Pro87Leu
ENST00000229195.7:c.320C>T ENSP00000229195.3:p.Pro107Leu
ENST00000418359.7:c.320C>T ENSP00000412091.3:p.Pro107Leu
ENST00000547149.5:n.276C>T
ENST00000547321.5:n.448C>T
ENST00000548021.5:n.390-5934C>T
ENST00000548159.5:c.293C>T ENSP00000449659.1:p.Pro98Leu
ENST00000548230.1:n.291C>T
ENST00000548599.5:c.172-5934C>T ENSP00000449917.1:n.172-5934C>T
ENST00000548863.1:n.342-5934C>T
ENST00000549443.5:n.312-3263C>T
ENST00000549750.5:c.320C>T ENSP00000449577.1:p.Pro107Leu
ENST00000550160.5:c.239-5934C>T ENSP00000448490.1:n.239-5934C>T
ENST00000550194.5:c.320C>T ENSP00000449446.1:p.Pro107Leu
ENST00000550641.5:c.260C>T ENSP00000448024.1:p.Pro87Leu
ENST00000551043.5:c.320C>T ENSP00000449260.1:p.Pro107Leu
ENST00000551873.5:c.65C>T ENSP00000450090.1:p.Pro22Leu
ENST00000552151.2:c.204C>T
ENST00000552231.5:c.320C>T ENSP00000450318.1:p.Pro107Leu
ENST00000552319.5:c.*213C>T ENSP00000448453.1:n.*213C>T
ENST00000552483.5:c.212-5934C>T ENSP00000450077.1:n.212-5934C>T
ENST00000552915.5:c.320C>T ENSP00000447497.1:p.Pro107Leu
NM_001199302.1:c.320C>T NP_001186231.1:p.Pro107Leu
NM_001199303.1:c.320C>T NP_001186232.1:p.Pro107Leu
NM_014515.5:c.320C>T NP_055330.1:p.Pro107Leu
NR_037615.1:n.1248C>T
XM_006719429.2:c.293C>T XP_006719492.1:p.Pro98Leu
XM_006719430.2:c.293C>T XP_006719493.1:p.Pro98Leu
XM_006719432.2:c.320C>T XP_006719495.1:p.Pro107Leu
XM_006719433.2:c.239-5934C>T XP_006719496.1:n.239-5934C>T
XM_011538399.1:c.320C>T XP_011536701.1:p.Pro107Leu
XM_011538400.1:c.260C>T XP_011536702.1:p.Pro87Leu
XM_011538401.1:c.320C>T XP_011536703.1:p.Pro107Leu
XM_006719429.3:c.293C>T XP_006719492.1:p.Pro98Leu
XM_006719430.3:c.293C>T XP_006719493.1:p.Pro98Leu
XM_006719432.4:c.320C>T XP_006719495.1:p.Pro107Leu
XM_006719433.4:c.239-5934C>T XP_006719496.1:n.239-5934C>T
XM_011538400.3:c.260C>T XP_011536702.1:p.Pro87Leu
XM_017019348.1:c.293C>T XP_016874837.1:p.Pro98Leu
XM_017019349.1:c.293C>T XP_016874838.1:p.Pro98Leu
XM_017019350.1:c.260C>T XP_016874839.1:p.Pro87Leu
XM_017019351.1:c.260C>T XP_016874840.1:p.Pro87Leu
XM_017019352.1:c.260C>T XP_016874841.1:p.Pro87Leu
XM_017019353.1:c.212-5934C>T XP_016874842.1:n.212-5934C>T
XM_017019354.1:c.212-5934C>T XP_016874843.1:n.212-5934C>T
XM_024448986.1:c.212-5934C>T XP_024304754.1:n.212-5934C>T
XM_024448987.1:c.179-5934C>T XP_024304755.1:n.179-5934C>T
XM_024448988.1:c.320C>T XP_024304756.1:p.Pro107Leu
XR_001748718.1:n.676C>T
NM_014515.6:c.320C>T NP_055330.1:p.Pro107Leu
NM_001199302.2:c.320C>T NP_001186231.1:p.Pro107Leu
NM_001199303.2:c.320C>T NP_001186232.1:p.Pro107Leu
NM_014515.7:c.320C>T MANE Select NP_055330.1:p.Pro107Leu
NR_037615.2:n.1221C>T