Canonical Allele Identifier: CA130678

Gene: CAMK2G

Linked Data

• ClinVar Variation Id: 39975
• ClinVar RCV Id: RCV000033109 ; RCV000678045 ; RCV001588840
• dbSNP Id: rs397514627
• MyVariant Identifiers: chr10:g.75602244C>G (hg19) ; chr10:g.73842486C>G (hg38)
• PubMed: PMID:23033978

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73842486C>G , CM000672.2:g.73842486C>G	GRCh38
NC_000010.10:g.75602244C>G , CM000672.1:g.75602244C>G	GRCh37
NC_000010.9:g.75272250C>G	NCBI36
NG_029408.1:g.37106G>C
NG_029408.2:g.37106G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700392.1:c.122G>C	ENSP00000514971.1:p.Arg41Pro
ENST00000700393.1:c.632G>C
ENST00000700394.1:n.997G>C
ENST00000700395.1:c.812G>C	ENSP00000514973.1:p.Arg271Pro
ENST00000700396.1:c.875G>C	ENSP00000514974.1:p.Arg292Pro
ENST00000700397.1:n.926G>C
ENST00000700398.1:c.*463G>C	ENSP00000514976.1:n.*463G>C
ENST00000700399.1:n.787G>C
ENST00000700400.1:n.656G>C
ENST00000700401.1:c.515G>C
ENST00000394762.7:c.122G>C	ENSP00000378243.4:p.Arg41Pro
ENST00000423381.6:c.875G>C MANE Select	ENSP00000410298.3:p.Arg292Pro
ENST00000441192.2:c.875G>C	ENSP00000405561.2:p.Arg292Pro
ENST00000680035.1:c.875G>C	ENSP00000505103.1:p.Arg292Pro
ENST00000305762.11:c.875G>C	ENSP00000307082.7:p.Arg292Pro
ENST00000322635.7:c.875G>C	ENSP00000315599.3:p.Arg292Pro
ENST00000322680.7:c.875G>C	ENSP00000319060.3:p.Arg292Pro
ENST00000351293.7:c.875G>C	ENSP00000277853.5:p.Arg292Pro
ENST00000372765.5:c.875G>C	ENSP00000361851.1:p.Arg292Pro
ENST00000394762.6:c.875G>C	ENSP00000378243.3:p.Arg292Pro
ENST00000423381.5:c.875G>C	ENSP00000410298.2:p.Arg292Pro
ENST00000433289.5:c.680G>C	ENSP00000393784.1:p.Arg227Pro
ENST00000441192.1:c.210G>C
ENST00000472912.5:n.981G>C
ENST00000492020.5:n.204G>C
NM_001204492.1:c.875G>C	NP_001191421.1:p.Arg292Pro
NM_001222.3:c.875G>C	NP_001213.2:p.Arg292Pro
NM_172169.2:c.875G>C	NP_751909.1:p.Arg292Pro
NM_172170.4:c.875G>C	NP_751910.1:p.Arg292Pro
NM_172171.2:c.875G>C	NP_751911.1:p.Arg292Pro
NM_172173.2:c.875G>C	NP_751913.1:p.Arg292Pro
XM_005270195.1:c.875G>C	XP_005270252.1:p.Arg292Pro
XM_005270197.1:c.875G>C	XP_005270254.1:p.Arg292Pro
XM_005270198.1:c.875G>C	XP_005270255.1:p.Arg292Pro
XM_005270199.1:c.875G>C	XP_005270256.1:p.Arg292Pro
XM_005270200.1:c.875G>C	XP_005270257.1:p.Arg292Pro
XM_005270201.1:c.875G>C	XP_005270258.1:p.Arg292Pro
XM_005270202.1:c.875G>C	XP_005270259.1:p.Arg292Pro
XM_005270203.1:c.875G>C	XP_005270260.1:p.Arg292Pro
XM_005270205.1:c.875G>C	XP_005270262.1:p.Arg292Pro
XM_006717993.1:c.875G>C	XP_006718056.1:p.Arg292Pro
XM_006717995.1:c.875G>C	XP_006718058.1:p.Arg292Pro
XM_006717996.1:c.875G>C	XP_006718059.1:p.Arg292Pro
XM_006717997.1:c.875G>C	XP_006718060.1:p.Arg292Pro
XM_006717998.1:c.875G>C	XP_006718061.1:p.Arg292Pro
XM_006717999.2:c.629G>C	XP_006718062.1:p.Arg210Pro
XM_006718000.1:c.122G>C	XP_006718063.1:p.Arg41Pro
XM_011540224.1:c.851G>C	XP_011538526.1:p.Arg284Pro
XM_011540225.1:c.851G>C	XP_011538527.1:p.Arg284Pro
XM_011540226.1:c.812G>C	XP_011538528.1:p.Arg271Pro
XM_011540227.1:c.788G>C	XP_011538529.1:p.Arg263Pro
XM_011540228.1:c.563G>C	XP_011538530.1:p.Arg188Pro
XM_011540229.1:c.563G>C	XP_011538531.1:p.Arg188Pro
XM_011540230.1:c.875G>C	XP_011538532.1:p.Arg292Pro
XM_011540231.1:c.875G>C	XP_011538533.1:p.Arg292Pro
XR_945821.1:n.996G>C
XR_945822.1:n.996G>C
XR_945823.1:n.996G>C
XR_945824.1:n.996G>C
NM_001320898.1:c.875G>C	NP_001307827.1:p.Arg292Pro
XM_011540225.2:c.851G>C	XP_011538527.1:p.Arg284Pro
XM_017016716.1:c.875G>C	XP_016872205.1:p.Arg292Pro
XM_017016717.1:c.851G>C	XP_016872206.1:p.Arg284Pro
XM_017016718.1:c.875G>C	XP_016872207.1:p.Arg292Pro
XM_017016719.1:c.875G>C	XP_016872208.1:p.Arg292Pro
XM_017016720.1:c.875G>C	XP_016872209.1:p.Arg292Pro
XM_017016722.1:c.875G>C	XP_016872211.1:p.Arg292Pro
XM_017016723.1:c.875G>C	XP_016872212.1:p.Arg292Pro
XM_017016724.1:c.875G>C	XP_016872213.1:p.Arg292Pro
XM_017016725.1:c.875G>C	XP_016872214.1:p.Arg292Pro
XM_017016726.1:c.875G>C	XP_016872215.1:p.Arg292Pro
XM_017016727.1:c.875G>C	XP_016872216.1:p.Arg292Pro
XM_017016728.1:c.851G>C	XP_016872217.1:p.Arg284Pro
XM_017016730.1:c.875G>C	XP_016872219.1:p.Arg292Pro
XM_017016733.1:c.851G>C	XP_016872222.1:p.Arg284Pro
XM_017016734.1:c.629G>C	XP_016872223.1:p.Arg210Pro
XM_017016735.1:c.875G>C	XP_016872224.1:p.Arg292Pro
XM_017016737.1:c.629G>C	XP_016872226.1:p.Arg210Pro
XM_024448214.1:c.851G>C	XP_024303982.1:p.Arg284Pro
XM_024448215.1:c.875G>C	XP_024303983.1:p.Arg292Pro
XM_024448216.1:c.629G>C	XP_024303984.1:p.Arg210Pro
XM_024448217.1:c.629G>C	XP_024303985.1:p.Arg210Pro
XM_024448218.1:c.851G>C	XP_024303986.1:p.Arg284Pro
XM_024448219.1:c.629G>C	XP_024303987.1:p.Arg210Pro
XR_001747218.1:n.996G>C
XR_001747219.1:n.996G>C
XR_002957023.1:n.996G>C
NM_001367514.1:c.851G>C	NP_001354443.1:p.Arg284Pro
NM_001367516.1:c.875G>C	NP_001354445.1:p.Arg292Pro
NM_001367517.1:c.875G>C	NP_001354446.1:p.Arg292Pro
NM_001367518.1:c.875G>C	NP_001354447.1:p.Arg292Pro
NM_001367519.1:c.875G>C	NP_001354448.1:p.Arg292Pro
NM_001367520.1:c.875G>C	NP_001354449.1:p.Arg292Pro
NM_001367521.1:c.875G>C	NP_001354450.1:p.Arg292Pro
NM_001367522.1:c.875G>C	NP_001354451.1:p.Arg292Pro
NM_001367523.1:c.875G>C	NP_001354452.1:p.Arg292Pro
NM_001367524.1:c.629G>C	NP_001354453.1:p.Arg210Pro
NM_001367525.1:c.851G>C	NP_001354454.1:p.Arg284Pro
NM_001367526.1:c.875G>C	NP_001354455.1:p.Arg292Pro
NM_001367527.1:c.875G>C	NP_001354456.1:p.Arg292Pro
NM_001367528.1:c.875G>C	NP_001354457.1:p.Arg292Pro
NM_001367529.1:c.875G>C	NP_001354458.1:p.Arg292Pro
NM_001367530.1:c.875G>C	NP_001354459.1:p.Arg292Pro
NM_001367531.1:c.875G>C	NP_001354460.1:p.Arg292Pro
NM_001367532.1:c.851G>C	NP_001354461.1:p.Arg284Pro
NM_001367533.1:c.875G>C	NP_001354462.1:p.Arg292Pro
NM_001367534.1:c.875G>C MANE Select	NP_001354463.1:p.Arg292Pro
NM_001367535.1:c.875G>C	NP_001354464.1:p.Arg292Pro
NM_001367536.1:c.875G>C	NP_001354465.1:p.Arg292Pro
NM_001367537.1:c.563G>C	NP_001354466.1:p.Arg188Pro
NM_001367538.1:c.563G>C	NP_001354467.1:p.Arg188Pro
NM_001367539.1:c.629G>C	NP_001354468.1:p.Arg210Pro
NM_001367540.1:c.209G>C	NP_001354469.1:p.Arg70Pro
NM_001367541.1:c.875G>C	NP_001354470.1:p.Arg292Pro
NM_001367542.1:c.122G>C	NP_001354471.1:p.Arg41Pro
NM_001367543.1:c.875G>C	NP_001354472.1:p.Arg292Pro
NM_001367544.1:c.875G>C	NP_001354473.1:p.Arg292Pro
NM_001367545.1:c.875G>C	NP_001354474.1:p.Arg292Pro
NM_001367546.1:c.875G>C	NP_001354475.1:p.Arg292Pro
NM_001367547.1:c.875G>C	NP_001354476.1:p.Arg292Pro
NM_001367548.1:c.875G>C	NP_001354477.1:p.Arg292Pro
NR_160040.1:n.969G>C
NR_160041.1:n.945G>C
NR_160042.1:n.914G>C
NR_160044.1:n.965G>C
NR_160045.1:n.874G>C
NR_160046.1:n.1413G>C
NR_160047.1:n.1099G>C
NR_160263.1:n.982G>C
NM_001222.4:c.875G>C	NP_001213.2:p.Arg292Pro
NM_172169.3:c.875G>C	NP_751909.1:p.Arg292Pro
NM_172170.5:c.875G>C	NP_751910.1:p.Arg292Pro
NM_172173.3:c.875G>C	NP_751913.1:p.Arg292Pro
NM_001204492.2:c.875G>C	NP_001191421.1:p.Arg292Pro
NM_001320898.2:c.875G>C	NP_001307827.1:p.Arg292Pro
NM_172171.3:c.875G>C	NP_751911.1:p.Arg292Pro