Canonical Allele Identifier: CA055029
Community Standard Title: NM_000548.5(TSC2):c.5309C>G (p.Pro1770Arg)
Gene: TSC2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5309C>G MANE Select NP_000539.2:p.Pro1770Arg
ENST00000219476.9:c.5309C>G MANE Select ENSP00000219476.3:p.Pro1770Arg
NM_000548.3:c.5309C>G , LRG_487t1:c.5309C>G NP_000539.2:p.Pro1770Arg
NM_000548.4:c.5309C>G NP_000539.2:p.Pro1770Arg
NM_001077183.1:c.5108C>G NP_001070651.1:p.Pro1703Arg
NM_001077183.2:c.5108C>G NP_001070651.1:p.Pro1703Arg
NM_001077183.3:c.5108C>G NP_001070651.1:p.Pro1703Arg
NM_001114382.1:c.5240C>G NP_001107854.1:p.Pro1747Arg
NM_001114382.2:c.5240C>G NP_001107854.1:p.Pro1747Arg
NM_001114382.3:c.5240C>G NP_001107854.1:p.Pro1747Arg
NM_001318827.1:c.5000C>G NP_001305756.1:p.Pro1667Arg
NM_001318827.2:c.5000C>G NP_001305756.1:p.Pro1667Arg
NM_001318829.1:c.4964C>G NP_001305758.1:p.Pro1655Arg
NM_001318829.2:c.4964C>G NP_001305758.1:p.Pro1655Arg
NM_001318831.1:c.4577C>G NP_001305760.1:p.Pro1526Arg
NM_001318831.2:c.4577C>G NP_001305760.1:p.Pro1526Arg
NM_001318832.1:c.5141C>G NP_001305761.1:p.Pro1714Arg
NM_001318832.2:c.5141C>G NP_001305761.1:p.Pro1714Arg
NM_001363528.1:c.5111C>G NP_001350457.1:p.Pro1704Arg
NM_001363528.2:c.5111C>G NP_001350457.1:p.Pro1704Arg
NM_001370404.1:c.5177C>G NP_001357333.1:p.Pro1726Arg
NM_001370405.1:c.5168C>G NP_001357334.1:p.Pro1723Arg
NM_021055.2:c.5180C>G NP_066399.2:p.Pro1727Arg
NM_021055.3:c.5180C>G NP_066399.2:p.Pro1727Arg
ENST00000219476.7:c.5309C>G ENSP00000219476.3:p.Pro1770Arg
ENST00000350773.8:c.5240C>G ENSP00000344383.4:p.Pro1747Arg
ENST00000350773.9:c.5240C>G ENSP00000344383.4:p.Pro1747Arg
ENST00000382538.10:c.4964C>G ENSP00000371978.6:p.Pro1655Arg
ENST00000401874.6:c.5108C>G ENSP00000384468.2:p.Pro1703Arg
ENST00000401874.7:c.5108C>G ENSP00000384468.2:p.Pro1703Arg
ENST00000439117.6:c.*4476C>G ENSP00000406980.2:n.*4476C>G
ENST00000439673.6:c.5000C>G ENSP00000399232.2:p.Pro1667Arg
ENST00000497886.5:n.3032C>G
ENST00000568454.5:c.5141C>G ENSP00000454487.1:p.Pro1714Arg
ENST00000568454.6:c.5141C>G ENSP00000454487.1:p.Pro1714Arg
ENST00000568566.6:c.*3658C>G ENSP00000455997.2:n.*3658C>G
ENST00000569110.1:c.1491C>G
ENST00000569110.2:c.1532C>G
ENST00000569930.1:n.2424C>G
ENST00000569930.2:n.3191C>G
ENST00000642206.2:c.5156C>G ENSP00000495146.2:p.Pro1719Arg
ENST00000642365.1:c.3963C>G
ENST00000642365.2:c.5306C>G ENSP00000495459.2:p.Pro1769Arg
ENST00000642561.1:c.5168C>G ENSP00000495099.1:p.Pro1723Arg
ENST00000642791.1:n.906C>G
ENST00000642797.1:c.5111C>G ENSP00000493846.1:p.Pro1704Arg
ENST00000642936.1:c.5177C>G ENSP00000494514.1:p.Pro1726Arg
ENST00000643088.1:c.5102C>G ENSP00000494747.1:p.Pro1701Arg
ENST00000643426.1:n.2957C>G
ENST00000643946.1:c.5234C>G ENSP00000495927.1:p.Pro1745Arg
ENST00000644043.1:c.5180C>G ENSP00000496262.1:p.Pro1727Arg
ENST00000644329.1:c.5195C>G ENSP00000496611.1:p.Pro1732Arg
ENST00000644335.1:c.5105C>G ENSP00000496317.1:p.Pro1702Arg
ENST00000644399.1:c.5230C>G
ENST00000644417.2:c.*5822C>G ENSP00000493912.2:n.*5822C>G
ENST00000645024.1:n.3393C>G
ENST00000646388.1:c.5303C>G ENSP00000495921.1:p.Pro1768Arg
ENST00000646464.2:c.*8058C>G ENSP00000496610.2:n.*8058C>G
ENST00000646634.1:n.4124C>G
ENST00000646674.1:n.2561C>G
ENST00000647042.1:n.2532C>G
ENST00000647180.1:n.2422C>G
XM_005255529.3:c.5180C>G XP_005255586.2:p.Pro1727Arg
XM_005255531.3:c.5111C>G XP_005255588.2:p.Pro1704Arg
XM_005255531.4:c.5111C>G XP_005255588.2:p.Pro1704Arg
XM_011522636.1:c.5363C>G XP_011520938.1:p.Pro1788Arg
XM_011522636.2:c.5363C>G XP_011520938.1:p.Pro1788Arg
XM_011522637.1:c.5360C>G XP_011520939.1:p.Pro1787Arg
XM_011522637.2:c.5360C>G XP_011520939.1:p.Pro1787Arg
XM_011522638.1:c.5252C>G XP_011520940.1:p.Pro1751Arg
XM_011522638.2:c.5525C>G XP_011520940.2:p.Pro1842Arg
XM_011522639.1:c.5234C>G XP_011520941.1:p.Pro1745Arg
XM_011522639.2:c.5234C>G XP_011520941.1:p.Pro1745Arg
XM_011522640.1:c.5231C>G XP_011520942.1:p.Pro1744Arg
XM_011522640.2:c.5231C>G XP_011520942.1:p.Pro1744Arg
XM_011522641.1:c.5000C>G XP_011520943.1:p.Pro1667Arg
XM_017023615.1:c.5306C>G XP_016879104.1:p.Pro1769Arg
XM_017023616.1:c.5177C>G XP_016879105.1:p.Pro1726Arg
XM_017023617.1:c.5273C>G XP_016879106.1:p.Pro1758Arg
XM_017023618.1:c.4019C>G XP_016879107.1:p.Pro1340Arg
XM_024450413.1:c.5195C>G XP_024306181.1:p.Pro1732Arg