Canonical Allele Identifier: CA394315411
Community Standard Title: NM_000548.5(TSC2):c.5309C>T (p.Pro1770Leu)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088495C>T , CM000678.2:g.2088495C>T GRCh38
NC_000016.9:g.2138496C>T , CM000678.1:g.2138496C>T GRCh37
NC_000016.8:g.2078497C>T NCBI36
NG_005895.1:g.44190C>T , LRG_487:g.44190C>T
NG_008617.1:g.54726G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5309C>T MANE Select NP_000539.2:p.Pro1770Leu
ENST00000219476.9:c.5309C>T MANE Select ENSP00000219476.3:p.Pro1770Leu
NM_000548.3:c.5309C>T , LRG_487t1:c.5309C>T NP_000539.2:p.Pro1770Leu
NM_000548.4:c.5309C>T NP_000539.2:p.Pro1770Leu
NM_001077183.1:c.5108C>T NP_001070651.1:p.Pro1703Leu
NM_001077183.2:c.5108C>T NP_001070651.1:p.Pro1703Leu
NM_001077183.3:c.5108C>T NP_001070651.1:p.Pro1703Leu
NM_001114382.1:c.5240C>T NP_001107854.1:p.Pro1747Leu
NM_001114382.2:c.5240C>T NP_001107854.1:p.Pro1747Leu
NM_001114382.3:c.5240C>T NP_001107854.1:p.Pro1747Leu
NM_001318827.1:c.5000C>T NP_001305756.1:p.Pro1667Leu
NM_001318827.2:c.5000C>T NP_001305756.1:p.Pro1667Leu
NM_001318829.1:c.4964C>T NP_001305758.1:p.Pro1655Leu
NM_001318829.2:c.4964C>T NP_001305758.1:p.Pro1655Leu
NM_001318831.1:c.4577C>T NP_001305760.1:p.Pro1526Leu
NM_001318831.2:c.4577C>T NP_001305760.1:p.Pro1526Leu
NM_001318832.1:c.5141C>T NP_001305761.1:p.Pro1714Leu
NM_001318832.2:c.5141C>T NP_001305761.1:p.Pro1714Leu
NM_001363528.1:c.5111C>T NP_001350457.1:p.Pro1704Leu
NM_001363528.2:c.5111C>T NP_001350457.1:p.Pro1704Leu
NM_001370404.1:c.5177C>T NP_001357333.1:p.Pro1726Leu
NM_001370405.1:c.5168C>T NP_001357334.1:p.Pro1723Leu
NM_021055.2:c.5180C>T NP_066399.2:p.Pro1727Leu
NM_021055.3:c.5180C>T NP_066399.2:p.Pro1727Leu
ENST00000219476.7:c.5309C>T ENSP00000219476.3:p.Pro1770Leu
ENST00000350773.8:c.5240C>T ENSP00000344383.4:p.Pro1747Leu
ENST00000350773.9:c.5240C>T ENSP00000344383.4:p.Pro1747Leu
ENST00000382538.10:c.4964C>T ENSP00000371978.6:p.Pro1655Leu
ENST00000401874.6:c.5108C>T ENSP00000384468.2:p.Pro1703Leu
ENST00000401874.7:c.5108C>T ENSP00000384468.2:p.Pro1703Leu
ENST00000439117.6:c.*4476C>T ENSP00000406980.2:n.*4476C>T
ENST00000439673.6:c.5000C>T ENSP00000399232.2:p.Pro1667Leu
ENST00000497886.5:n.3032C>T
ENST00000568454.5:c.5141C>T ENSP00000454487.1:p.Pro1714Leu
ENST00000568454.6:c.5141C>T ENSP00000454487.1:p.Pro1714Leu
ENST00000568566.6:c.*3658C>T ENSP00000455997.2:n.*3658C>T
ENST00000569110.1:c.1491C>T
ENST00000569110.2:c.1532C>T
ENST00000569930.1:n.2424C>T
ENST00000569930.2:n.3191C>T
ENST00000642206.2:c.5156C>T ENSP00000495146.2:p.Pro1719Leu
ENST00000642365.1:c.3963C>T
ENST00000642365.2:c.5306C>T ENSP00000495459.2:p.Pro1769Leu
ENST00000642561.1:c.5168C>T ENSP00000495099.1:p.Pro1723Leu
ENST00000642791.1:n.906C>T
ENST00000642797.1:c.5111C>T ENSP00000493846.1:p.Pro1704Leu
ENST00000642936.1:c.5177C>T ENSP00000494514.1:p.Pro1726Leu
ENST00000643088.1:c.5102C>T ENSP00000494747.1:p.Pro1701Leu
ENST00000643426.1:n.2957C>T
ENST00000643946.1:c.5234C>T ENSP00000495927.1:p.Pro1745Leu
ENST00000644043.1:c.5180C>T ENSP00000496262.1:p.Pro1727Leu
ENST00000644329.1:c.5195C>T ENSP00000496611.1:p.Pro1732Leu
ENST00000644335.1:c.5105C>T ENSP00000496317.1:p.Pro1702Leu
ENST00000644399.1:c.5230C>T
ENST00000644417.2:c.*5822C>T ENSP00000493912.2:n.*5822C>T
ENST00000645024.1:n.3393C>T
ENST00000646388.1:c.5303C>T ENSP00000495921.1:p.Pro1768Leu
ENST00000646464.2:c.*8058C>T ENSP00000496610.2:n.*8058C>T
ENST00000646634.1:n.4124C>T
ENST00000646674.1:n.2561C>T
ENST00000647042.1:n.2532C>T
ENST00000647180.1:n.2422C>T
XM_005255529.3:c.5180C>T XP_005255586.2:p.Pro1727Leu
XM_005255531.3:c.5111C>T XP_005255588.2:p.Pro1704Leu
XM_005255531.4:c.5111C>T XP_005255588.2:p.Pro1704Leu
XM_011522636.1:c.5363C>T XP_011520938.1:p.Pro1788Leu
XM_011522636.2:c.5363C>T XP_011520938.1:p.Pro1788Leu
XM_011522637.1:c.5360C>T XP_011520939.1:p.Pro1787Leu
XM_011522637.2:c.5360C>T XP_011520939.1:p.Pro1787Leu
XM_011522638.1:c.5252C>T XP_011520940.1:p.Pro1751Leu
XM_011522638.2:c.5525C>T XP_011520940.2:p.Pro1842Leu
XM_011522639.1:c.5234C>T XP_011520941.1:p.Pro1745Leu
XM_011522639.2:c.5234C>T XP_011520941.1:p.Pro1745Leu
XM_011522640.1:c.5231C>T XP_011520942.1:p.Pro1744Leu
XM_011522640.2:c.5231C>T XP_011520942.1:p.Pro1744Leu
XM_011522641.1:c.5000C>T XP_011520943.1:p.Pro1667Leu
XM_017023615.1:c.5306C>T XP_016879104.1:p.Pro1769Leu
XM_017023616.1:c.5177C>T XP_016879105.1:p.Pro1726Leu
XM_017023617.1:c.5273C>T XP_016879106.1:p.Pro1758Leu
XM_017023618.1:c.4019C>T XP_016879107.1:p.Pro1340Leu
XM_024450413.1:c.5195C>T XP_024306181.1:p.Pro1732Leu