Canonical Allele Identifier: CA394315713
Community Standard Title: NM_000548.5(TSC2):c.5347G>C (p.Glu1783Gln)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088533G>C , CM000678.2:g.2088533G>C GRCh38
NC_000016.9:g.2138534G>C , CM000678.1:g.2138534G>C GRCh37
NC_000016.8:g.2078535G>C NCBI36
NG_005895.1:g.44228G>C , LRG_487:g.44228G>C
NG_008617.1:g.54688C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5347G>C MANE Select NP_000539.2:p.Glu1783Gln
ENST00000219476.9:c.5347G>C MANE Select ENSP00000219476.3:p.Glu1783Gln
NM_000548.3:c.5347G>C , LRG_487t1:c.5347G>C NP_000539.2:p.Glu1783Gln
NM_000548.4:c.5347G>C NP_000539.2:p.Glu1783Gln
NM_001077183.1:c.5146G>C NP_001070651.1:p.Glu1716Gln
NM_001077183.2:c.5146G>C NP_001070651.1:p.Glu1716Gln
NM_001077183.3:c.5146G>C NP_001070651.1:p.Glu1716Gln
NM_001114382.1:c.5278G>C NP_001107854.1:p.Glu1760Gln
NM_001114382.2:c.5278G>C NP_001107854.1:p.Glu1760Gln
NM_001114382.3:c.5278G>C NP_001107854.1:p.Glu1760Gln
NM_001318827.1:c.5038G>C NP_001305756.1:p.Glu1680Gln
NM_001318827.2:c.5038G>C NP_001305756.1:p.Glu1680Gln
NM_001318829.1:c.5002G>C NP_001305758.1:p.Glu1668Gln
NM_001318829.2:c.5002G>C NP_001305758.1:p.Glu1668Gln
NM_001318831.1:c.4615G>C NP_001305760.1:p.Glu1539Gln
NM_001318831.2:c.4615G>C NP_001305760.1:p.Glu1539Gln
NM_001318832.1:c.5179G>C NP_001305761.1:p.Glu1727Gln
NM_001318832.2:c.5179G>C NP_001305761.1:p.Glu1727Gln
NM_001363528.1:c.5149G>C NP_001350457.1:p.Glu1717Gln
NM_001363528.2:c.5149G>C NP_001350457.1:p.Glu1717Gln
NM_001370404.1:c.5215G>C NP_001357333.1:p.Glu1739Gln
NM_001370405.1:c.5206G>C NP_001357334.1:p.Glu1736Gln
NM_021055.2:c.5218G>C NP_066399.2:p.Glu1740Gln
NM_021055.3:c.5218G>C NP_066399.2:p.Glu1740Gln
ENST00000219476.7:c.5347G>C ENSP00000219476.3:p.Glu1783Gln
ENST00000350773.8:c.5278G>C ENSP00000344383.4:p.Glu1760Gln
ENST00000350773.9:c.5278G>C ENSP00000344383.4:p.Glu1760Gln
ENST00000382538.10:c.5002G>C ENSP00000371978.6:p.Glu1668Gln
ENST00000401874.6:c.5146G>C ENSP00000384468.2:p.Glu1716Gln
ENST00000401874.7:c.5146G>C ENSP00000384468.2:p.Glu1716Gln
ENST00000439117.6:c.*4514G>C ENSP00000406980.2:n.*4514G>C
ENST00000439673.6:c.5038G>C ENSP00000399232.2:p.Glu1680Gln
ENST00000497886.5:n.3070G>C
ENST00000568454.5:c.5179G>C ENSP00000454487.1:p.Glu1727Gln
ENST00000568454.6:c.5179G>C ENSP00000454487.1:p.Glu1727Gln
ENST00000568566.6:c.*3696G>C ENSP00000455997.2:n.*3696G>C
ENST00000569110.1:c.1529G>C
ENST00000569110.2:c.1570G>C
ENST00000569930.1:n.2462G>C
ENST00000569930.2:n.3229G>C
ENST00000642206.2:c.5194G>C ENSP00000495146.2:p.Glu1732Gln
ENST00000642365.1:c.4001G>C
ENST00000642365.2:c.5344G>C ENSP00000495459.2:p.Glu1782Gln
ENST00000642561.1:c.5206G>C ENSP00000495099.1:p.Glu1736Gln
ENST00000642791.1:n.944G>C
ENST00000642797.1:c.5149G>C ENSP00000493846.1:p.Glu1717Gln
ENST00000642936.1:c.5215G>C ENSP00000494514.1:p.Glu1739Gln
ENST00000643088.1:c.5140G>C ENSP00000494747.1:p.Glu1714Gln
ENST00000643426.1:n.2995G>C
ENST00000643946.1:c.5272G>C ENSP00000495927.1:p.Glu1758Gln
ENST00000644043.1:c.5218G>C ENSP00000496262.1:p.Glu1740Gln
ENST00000644329.1:c.5233G>C ENSP00000496611.1:p.Glu1745Gln
ENST00000644335.1:c.5143G>C ENSP00000496317.1:p.Glu1715Gln
ENST00000644399.1:c.5268G>C
ENST00000644417.2:c.*5860G>C ENSP00000493912.2:n.*5860G>C
ENST00000645024.1:n.3431G>C
ENST00000646388.1:c.5341G>C ENSP00000495921.1:p.Glu1781Gln
ENST00000646464.2:c.*8096G>C ENSP00000496610.2:n.*8096G>C
ENST00000646634.1:n.4162G>C
ENST00000646674.1:n.2599G>C
ENST00000647042.1:n.2570G>C
ENST00000647180.1:n.2460G>C
XM_005255529.3:c.5218G>C XP_005255586.2:p.Glu1740Gln
XM_005255531.3:c.5149G>C XP_005255588.2:p.Glu1717Gln
XM_005255531.4:c.5149G>C XP_005255588.2:p.Glu1717Gln
XM_011522636.1:c.5401G>C XP_011520938.1:p.Glu1801Gln
XM_011522636.2:c.5401G>C XP_011520938.1:p.Glu1801Gln
XM_011522637.1:c.5398G>C XP_011520939.1:p.Glu1800Gln
XM_011522637.2:c.5398G>C XP_011520939.1:p.Glu1800Gln
XM_011522638.1:c.5290G>C XP_011520940.1:p.Glu1764Gln
XM_011522638.2:c.5563G>C XP_011520940.2:p.Glu1855Gln
XM_011522639.1:c.5272G>C XP_011520941.1:p.Glu1758Gln
XM_011522639.2:c.5272G>C XP_011520941.1:p.Glu1758Gln
XM_011522640.1:c.5269G>C XP_011520942.1:p.Glu1757Gln
XM_011522640.2:c.5269G>C XP_011520942.1:p.Glu1757Gln
XM_011522641.1:c.5038G>C XP_011520943.1:p.Glu1680Gln
XM_017023615.1:c.5344G>C XP_016879104.1:p.Glu1782Gln
XM_017023616.1:c.5215G>C XP_016879105.1:p.Glu1739Gln
XM_017023617.1:c.5311G>C XP_016879106.1:p.Glu1771Gln
XM_017023618.1:c.4057G>C XP_016879107.1:p.Glu1353Gln
XM_024450413.1:c.5233G>C XP_024306181.1:p.Glu1745Gln