Canonical Allele Identifier: CA394314610
Community Standard Title: NM_000548.5(TSC2):c.5237A>C (p.His1746Pro)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088303A>C , CM000678.2:g.2088303A>C GRCh38
NC_000016.9:g.2138304A>C , CM000678.1:g.2138304A>C GRCh37
NC_000016.8:g.2078305A>C NCBI36
NG_005895.1:g.43998A>C , LRG_487:g.43998A>C
NG_008617.1:g.54918T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5237A>C MANE Select NP_000539.2:p.His1746Pro
ENST00000219476.9:c.5237A>C MANE Select ENSP00000219476.3:p.His1746Pro
NM_000548.3:c.5237A>C , LRG_487t1:c.5237A>C NP_000539.2:p.His1746Pro
NM_000548.4:c.5237A>C NP_000539.2:p.His1746Pro
NM_001077183.1:c.5036A>C NP_001070651.1:p.His1679Pro
NM_001077183.2:c.5036A>C NP_001070651.1:p.His1679Pro
NM_001077183.3:c.5036A>C NP_001070651.1:p.His1679Pro
NM_001114382.1:c.5168A>C NP_001107854.1:p.His1723Pro
NM_001114382.2:c.5168A>C NP_001107854.1:p.His1723Pro
NM_001114382.3:c.5168A>C NP_001107854.1:p.His1723Pro
NM_001318827.1:c.4928A>C NP_001305756.1:p.His1643Pro
NM_001318827.2:c.4928A>C NP_001305756.1:p.His1643Pro
NM_001318829.1:c.4892A>C NP_001305758.1:p.His1631Pro
NM_001318829.2:c.4892A>C NP_001305758.1:p.His1631Pro
NM_001318831.1:c.4505A>C NP_001305760.1:p.His1502Pro
NM_001318831.2:c.4505A>C NP_001305760.1:p.His1502Pro
NM_001318832.1:c.5069A>C NP_001305761.1:p.His1690Pro
NM_001318832.2:c.5069A>C NP_001305761.1:p.His1690Pro
NM_001363528.1:c.5039A>C NP_001350457.1:p.His1680Pro
NM_001363528.2:c.5039A>C NP_001350457.1:p.His1680Pro
NM_001370404.1:c.5105A>C NP_001357333.1:p.His1702Pro
NM_001370405.1:c.5096A>C NP_001357334.1:p.His1699Pro
NM_021055.2:c.5108A>C NP_066399.2:p.His1703Pro
NM_021055.3:c.5108A>C NP_066399.2:p.His1703Pro
ENST00000219476.7:c.5237A>C ENSP00000219476.3:p.His1746Pro
ENST00000350773.8:c.5168A>C ENSP00000344383.4:p.His1723Pro
ENST00000350773.9:c.5168A>C ENSP00000344383.4:p.His1723Pro
ENST00000382538.10:c.4892A>C ENSP00000371978.6:p.His1631Pro
ENST00000401874.6:c.5036A>C ENSP00000384468.2:p.His1679Pro
ENST00000401874.7:c.5036A>C ENSP00000384468.2:p.His1679Pro
ENST00000439117.6:c.*4404A>C ENSP00000406980.2:n.*4404A>C
ENST00000439673.6:c.4928A>C ENSP00000399232.2:p.His1643Pro
ENST00000497886.5:n.2960A>C
ENST00000568454.5:c.5069A>C ENSP00000454487.1:p.His1690Pro
ENST00000568454.6:c.5069A>C ENSP00000454487.1:p.His1690Pro
ENST00000568566.6:c.*3586A>C ENSP00000455997.2:n.*3586A>C
ENST00000569110.1:c.1419A>C
ENST00000569110.2:c.1460A>C
ENST00000569930.1:n.2352A>C
ENST00000569930.2:n.3119A>C
ENST00000642206.2:c.5084A>C ENSP00000495146.2:p.His1695Pro
ENST00000642365.1:c.3891A>C
ENST00000642365.2:c.5234A>C ENSP00000495459.2:p.His1745Pro
ENST00000642561.1:c.5096A>C ENSP00000495099.1:p.His1699Pro
ENST00000642791.1:n.834A>C
ENST00000642797.1:c.5039A>C ENSP00000493846.1:p.His1680Pro
ENST00000642936.1:c.5105A>C ENSP00000494514.1:p.His1702Pro
ENST00000643088.1:c.5030A>C ENSP00000494747.1:p.His1677Pro
ENST00000643426.1:n.2885A>C
ENST00000643946.1:c.5162A>C ENSP00000495927.1:p.His1721Pro
ENST00000644043.1:c.5108A>C ENSP00000496262.1:p.His1703Pro
ENST00000644329.1:c.5123A>C ENSP00000496611.1:p.His1708Pro
ENST00000644335.1:c.5033A>C ENSP00000496317.1:p.His1678Pro
ENST00000644399.1:c.5158A>C
ENST00000644417.2:c.*5750A>C ENSP00000493912.2:n.*5750A>C
ENST00000645024.1:n.3321A>C
ENST00000646388.1:c.5231A>C ENSP00000495921.1:p.His1744Pro
ENST00000646464.2:c.*7986A>C ENSP00000496610.2:n.*7986A>C
ENST00000646634.1:n.4052A>C
ENST00000646674.1:n.2489A>C
ENST00000647042.1:n.2460A>C
ENST00000647180.1:n.2350A>C
XM_005255529.3:c.5108A>C XP_005255586.2:p.His1703Pro
XM_005255531.3:c.5039A>C XP_005255588.2:p.His1680Pro
XM_005255531.4:c.5039A>C XP_005255588.2:p.His1680Pro
XM_011522636.1:c.5291A>C XP_011520938.1:p.His1764Pro
XM_011522636.2:c.5291A>C XP_011520938.1:p.His1764Pro
XM_011522637.1:c.5288A>C XP_011520939.1:p.His1763Pro
XM_011522637.2:c.5288A>C XP_011520939.1:p.His1763Pro
XM_011522638.1:c.5180A>C XP_011520940.1:p.His1727Pro
XM_011522638.2:c.5453A>C XP_011520940.2:p.His1818Pro
XM_011522639.1:c.5162A>C XP_011520941.1:p.His1721Pro
XM_011522639.2:c.5162A>C XP_011520941.1:p.His1721Pro
XM_011522640.1:c.5159A>C XP_011520942.1:p.His1720Pro
XM_011522640.2:c.5159A>C XP_011520942.1:p.His1720Pro
XM_011522641.1:c.4928A>C XP_011520943.1:p.His1643Pro
XM_017023615.1:c.5234A>C XP_016879104.1:p.His1745Pro
XM_017023616.1:c.5105A>C XP_016879105.1:p.His1702Pro
XM_017023617.1:c.5201A>C XP_016879106.1:p.His1734Pro
XM_017023618.1:c.3947A>C XP_016879107.1:p.His1316Pro
XM_024450413.1:c.5123A>C XP_024306181.1:p.His1708Pro