Canonical Allele Identifier: CA394315777
Community Standard Title: NM_000548.5(TSC2):c.5357C>T (p.Pro1786Leu)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088543C>T , CM000678.2:g.2088543C>T GRCh38
NC_000016.9:g.2138544C>T , CM000678.1:g.2138544C>T GRCh37
NC_000016.8:g.2078545C>T NCBI36
NG_005895.1:g.44238C>T , LRG_487:g.44238C>T
NG_008617.1:g.54678G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5357C>T MANE Select NP_000539.2:p.Pro1786Leu
ENST00000219476.9:c.5357C>T MANE Select ENSP00000219476.3:p.Pro1786Leu
NM_000548.3:c.5357C>T , LRG_487t1:c.5357C>T NP_000539.2:p.Pro1786Leu
NM_000548.4:c.5357C>T NP_000539.2:p.Pro1786Leu
NM_001077183.1:c.5156C>T NP_001070651.1:p.Pro1719Leu
NM_001077183.2:c.5156C>T NP_001070651.1:p.Pro1719Leu
NM_001077183.3:c.5156C>T NP_001070651.1:p.Pro1719Leu
NM_001114382.1:c.5288C>T NP_001107854.1:p.Pro1763Leu
NM_001114382.2:c.5288C>T NP_001107854.1:p.Pro1763Leu
NM_001114382.3:c.5288C>T NP_001107854.1:p.Pro1763Leu
NM_001318827.1:c.5048C>T NP_001305756.1:p.Pro1683Leu
NM_001318827.2:c.5048C>T NP_001305756.1:p.Pro1683Leu
NM_001318829.1:c.5012C>T NP_001305758.1:p.Pro1671Leu
NM_001318829.2:c.5012C>T NP_001305758.1:p.Pro1671Leu
NM_001318831.1:c.4625C>T NP_001305760.1:p.Pro1542Leu
NM_001318831.2:c.4625C>T NP_001305760.1:p.Pro1542Leu
NM_001318832.1:c.5189C>T NP_001305761.1:p.Pro1730Leu
NM_001318832.2:c.5189C>T NP_001305761.1:p.Pro1730Leu
NM_001363528.1:c.5159C>T NP_001350457.1:p.Pro1720Leu
NM_001363528.2:c.5159C>T NP_001350457.1:p.Pro1720Leu
NM_001370404.1:c.5225C>T NP_001357333.1:p.Pro1742Leu
NM_001370405.1:c.5216C>T NP_001357334.1:p.Pro1739Leu
NM_021055.2:c.5228C>T NP_066399.2:p.Pro1743Leu
NM_021055.3:c.5228C>T NP_066399.2:p.Pro1743Leu
ENST00000219476.7:c.5357C>T ENSP00000219476.3:p.Pro1786Leu
ENST00000350773.8:c.5288C>T ENSP00000344383.4:p.Pro1763Leu
ENST00000350773.9:c.5288C>T ENSP00000344383.4:p.Pro1763Leu
ENST00000382538.10:c.5012C>T ENSP00000371978.6:p.Pro1671Leu
ENST00000401874.6:c.5156C>T ENSP00000384468.2:p.Pro1719Leu
ENST00000401874.7:c.5156C>T ENSP00000384468.2:p.Pro1719Leu
ENST00000439117.6:c.*4524C>T ENSP00000406980.2:n.*4524C>T
ENST00000439673.6:c.5048C>T ENSP00000399232.2:p.Pro1683Leu
ENST00000497886.5:n.3080C>T
ENST00000568454.5:c.5189C>T ENSP00000454487.1:p.Pro1730Leu
ENST00000568454.6:c.5189C>T ENSP00000454487.1:p.Pro1730Leu
ENST00000568566.6:c.*3706C>T ENSP00000455997.2:n.*3706C>T
ENST00000569110.1:c.1539C>T
ENST00000569110.2:c.1580C>T
ENST00000569930.1:n.2472C>T
ENST00000569930.2:n.3239C>T
ENST00000642206.2:c.5204C>T ENSP00000495146.2:p.Pro1735Leu
ENST00000642365.1:c.4011C>T
ENST00000642365.2:c.5354C>T ENSP00000495459.2:p.Pro1785Leu
ENST00000642561.1:c.5216C>T ENSP00000495099.1:p.Pro1739Leu
ENST00000642791.1:n.954C>T
ENST00000642797.1:c.5159C>T ENSP00000493846.1:p.Pro1720Leu
ENST00000642936.1:c.5225C>T ENSP00000494514.1:p.Pro1742Leu
ENST00000643088.1:c.5150C>T ENSP00000494747.1:p.Pro1717Leu
ENST00000643426.1:n.3005C>T
ENST00000643946.1:c.5282C>T ENSP00000495927.1:p.Pro1761Leu
ENST00000644043.1:c.5228C>T ENSP00000496262.1:p.Pro1743Leu
ENST00000644329.1:c.5243C>T ENSP00000496611.1:p.Pro1748Leu
ENST00000644335.1:c.5153C>T ENSP00000496317.1:p.Pro1718Leu
ENST00000644399.1:c.5278C>T
ENST00000644417.2:c.*5870C>T ENSP00000493912.2:n.*5870C>T
ENST00000645024.1:n.3441C>T
ENST00000646388.1:c.5351C>T ENSP00000495921.1:p.Pro1784Leu
ENST00000646464.2:c.*8106C>T ENSP00000496610.2:n.*8106C>T
ENST00000646634.1:n.4172C>T
ENST00000646674.1:n.2609C>T
ENST00000647042.1:n.2580C>T
ENST00000647180.1:n.2470C>T
XM_005255529.3:c.5228C>T XP_005255586.2:p.Pro1743Leu
XM_005255531.3:c.5159C>T XP_005255588.2:p.Pro1720Leu
XM_005255531.4:c.5159C>T XP_005255588.2:p.Pro1720Leu
XM_011522636.1:c.5411C>T XP_011520938.1:p.Pro1804Leu
XM_011522636.2:c.5411C>T XP_011520938.1:p.Pro1804Leu
XM_011522637.1:c.5408C>T XP_011520939.1:p.Pro1803Leu
XM_011522637.2:c.5408C>T XP_011520939.1:p.Pro1803Leu
XM_011522638.1:c.5300C>T XP_011520940.1:p.Pro1767Leu
XM_011522638.2:c.5573C>T XP_011520940.2:p.Pro1858Leu
XM_011522639.1:c.5282C>T XP_011520941.1:p.Pro1761Leu
XM_011522639.2:c.5282C>T XP_011520941.1:p.Pro1761Leu
XM_011522640.1:c.5279C>T XP_011520942.1:p.Pro1760Leu
XM_011522640.2:c.5279C>T XP_011520942.1:p.Pro1760Leu
XM_011522641.1:c.5048C>T XP_011520943.1:p.Pro1683Leu
XM_017023615.1:c.5354C>T XP_016879104.1:p.Pro1785Leu
XM_017023616.1:c.5225C>T XP_016879105.1:p.Pro1742Leu
XM_017023617.1:c.5321C>T XP_016879106.1:p.Pro1774Leu
XM_017023618.1:c.4067C>T XP_016879107.1:p.Pro1356Leu
XM_024450413.1:c.5243C>T XP_024306181.1:p.Pro1748Leu