Canonical Allele Identifier: CA020481
Community Standard Title: NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084670G>C , CM000678.2:g.2084670G>C GRCh38
NC_000016.9:g.2134671G>C , CM000678.1:g.2134671G>C GRCh37
NC_000016.8:g.2074672G>C NCBI36
NG_005895.1:g.40365G>C , LRG_487:g.40365G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4448G>C MANE Select NP_000539.2:p.Arg1483Thr
ENST00000219476.9:c.4448G>C MANE Select ENSP00000219476.3:p.Arg1483Thr
NM_000548.3:c.4448G>C , LRG_487t1:c.4448G>C NP_000539.2:p.Arg1483Thr
NM_000548.4:c.4448G>C NP_000539.2:p.Arg1483Thr
NM_001077183.1:c.4247G>C NP_001070651.1:p.Arg1416Thr
NM_001077183.2:c.4247G>C NP_001070651.1:p.Arg1416Thr
NM_001077183.3:c.4247G>C NP_001070651.1:p.Arg1416Thr
NM_001114382.1:c.4379G>C NP_001107854.1:p.Arg1460Thr
NM_001114382.2:c.4379G>C NP_001107854.1:p.Arg1460Thr
NM_001114382.3:c.4379G>C NP_001107854.1:p.Arg1460Thr
NM_001318827.1:c.4139G>C NP_001305756.1:p.Arg1380Thr
NM_001318827.2:c.4139G>C NP_001305756.1:p.Arg1380Thr
NM_001318829.1:c.4103G>C NP_001305758.1:p.Arg1368Thr
NM_001318829.2:c.4103G>C NP_001305758.1:p.Arg1368Thr
NM_001318831.1:c.3716G>C NP_001305760.1:p.Arg1239Thr
NM_001318831.2:c.3716G>C NP_001305760.1:p.Arg1239Thr
NM_001318832.1:c.4280G>C NP_001305761.1:p.Arg1427Thr
NM_001318832.2:c.4280G>C NP_001305761.1:p.Arg1427Thr
NM_001363528.1:c.4250G>C NP_001350457.1:p.Arg1417Thr
NM_001363528.2:c.4250G>C NP_001350457.1:p.Arg1417Thr
NM_001370404.1:c.4316G>C NP_001357333.1:p.Arg1439Thr
NM_001370405.1:c.4319G>C NP_001357334.1:p.Arg1440Thr
NM_021055.2:c.4319G>C NP_066399.2:p.Arg1440Thr
NM_021055.3:c.4319G>C NP_066399.2:p.Arg1440Thr
ENST00000219476.7:c.4448G>C ENSP00000219476.3:p.Arg1483Thr
ENST00000350773.8:c.4379G>C ENSP00000344383.4:p.Arg1460Thr
ENST00000350773.9:c.4379G>C ENSP00000344383.4:p.Arg1460Thr
ENST00000382538.10:c.4103G>C ENSP00000371978.6:p.Arg1368Thr
ENST00000401874.6:c.4247G>C ENSP00000384468.2:p.Arg1416Thr
ENST00000401874.7:c.4247G>C ENSP00000384468.2:p.Arg1416Thr
ENST00000439117.6:c.*3615G>C ENSP00000406980.2:n.*3615G>C
ENST00000439673.6:c.4139G>C ENSP00000399232.2:p.Arg1380Thr
ENST00000497886.5:n.2206G>C
ENST00000568454.5:c.4280G>C ENSP00000454487.1:p.Arg1427Thr
ENST00000568454.6:c.4280G>C ENSP00000454487.1:p.Arg1427Thr
ENST00000568566.6:c.*2797G>C ENSP00000455997.2:n.*2797G>C
ENST00000569110.1:c.630G>C
ENST00000569110.2:c.684G>C
ENST00000569930.1:n.1563G>C
ENST00000569930.2:n.2330G>C
ENST00000642206.2:c.4295G>C ENSP00000495146.2:p.Arg1432Thr
ENST00000642365.1:c.3102G>C
ENST00000642365.2:c.4445G>C ENSP00000495459.2:p.Arg1482Thr
ENST00000642561.1:c.4319G>C ENSP00000495099.1:p.Arg1440Thr
ENST00000642728.1:n.630G>C
ENST00000642797.1:c.4250G>C ENSP00000493846.1:p.Arg1417Thr
ENST00000642936.1:c.4316G>C ENSP00000494514.1:p.Arg1439Thr
ENST00000643088.1:c.4247G>C ENSP00000494747.1:p.Arg1416Thr
ENST00000643177.1:n.462G>C
ENST00000643426.1:n.2096G>C
ENST00000643946.1:c.4379G>C ENSP00000495927.1:p.Arg1460Thr
ENST00000644043.1:c.4319G>C ENSP00000496262.1:p.Arg1440Thr
ENST00000644329.1:c.4247G>C ENSP00000496611.1:p.Arg1416Thr
ENST00000644335.1:c.4250G>C ENSP00000496317.1:p.Arg1417Thr
ENST00000644399.1:c.4369G>C
ENST00000644417.2:c.*4828G>C ENSP00000493912.2:n.*4828G>C
ENST00000645024.1:n.2532G>C
ENST00000646388.1:c.4448G>C ENSP00000495921.1:p.Arg1483Thr
ENST00000646464.2:c.*7197G>C ENSP00000496610.2:n.*7197G>C
ENST00000646634.1:n.3263G>C
ENST00000646674.1:n.1700G>C
ENST00000647042.1:n.1671G>C
ENST00000647180.1:n.1561G>C
XM_005255529.3:c.4319G>C XP_005255586.2:p.Arg1440Thr
XM_005255531.3:c.4250G>C XP_005255588.2:p.Arg1417Thr
XM_005255531.4:c.4250G>C XP_005255588.2:p.Arg1417Thr
XM_011522636.1:c.4502G>C XP_011520938.1:p.Arg1501Thr
XM_011522636.2:c.4502G>C XP_011520938.1:p.Arg1501Thr
XM_011522637.1:c.4499G>C XP_011520939.1:p.Arg1500Thr
XM_011522637.2:c.4499G>C XP_011520939.1:p.Arg1500Thr
XM_011522638.1:c.4391G>C XP_011520940.1:p.Arg1464Thr
XM_011522638.2:c.4664G>C XP_011520940.2:p.Arg1555Thr
XM_011522639.1:c.4373G>C XP_011520941.1:p.Arg1458Thr
XM_011522639.2:c.4373G>C XP_011520941.1:p.Arg1458Thr
XM_011522640.1:c.4370G>C XP_011520942.1:p.Arg1457Thr
XM_011522640.2:c.4370G>C XP_011520942.1:p.Arg1457Thr
XM_011522641.1:c.4139G>C XP_011520943.1:p.Arg1380Thr
XM_017023615.1:c.4445G>C XP_016879104.1:p.Arg1482Thr
XM_017023616.1:c.4316G>C XP_016879105.1:p.Arg1439Thr
XM_017023617.1:c.4412G>C XP_016879106.1:p.Arg1471Thr
XM_017023618.1:c.3158G>C XP_016879107.1:p.Arg1053Thr
XM_024450413.1:c.4247G>C XP_024306181.1:p.Arg1416Thr