Canonical Allele Identifier: CA055292
Community Standard Title: NM_000548.5(TSC2):c.5391C>G (p.Ile1797Met)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088577C>G , CM000678.2:g.2088577C>G GRCh38
NC_000016.9:g.2138578C>G , CM000678.1:g.2138578C>G GRCh37
NC_000016.8:g.2078579C>G NCBI36
NG_005895.1:g.44272C>G , LRG_487:g.44272C>G
NG_008617.1:g.54644G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5391C>G MANE Select NP_000539.2:p.Ile1797Met
ENST00000219476.9:c.5391C>G MANE Select ENSP00000219476.3:p.Ile1797Met
NM_000548.3:c.5391C>G , LRG_487t1:c.5391C>G NP_000539.2:p.Ile1797Met
NM_000548.4:c.5391C>G NP_000539.2:p.Ile1797Met
NM_001077183.1:c.5190C>G NP_001070651.1:p.Ile1730Met
NM_001077183.2:c.5190C>G NP_001070651.1:p.Ile1730Met
NM_001077183.3:c.5190C>G NP_001070651.1:p.Ile1730Met
NM_001114382.1:c.5322C>G NP_001107854.1:p.Ile1774Met
NM_001114382.2:c.5322C>G NP_001107854.1:p.Ile1774Met
NM_001114382.3:c.5322C>G NP_001107854.1:p.Ile1774Met
NM_001318827.1:c.5082C>G NP_001305756.1:p.Ile1694Met
NM_001318827.2:c.5082C>G NP_001305756.1:p.Ile1694Met
NM_001318829.1:c.5046C>G NP_001305758.1:p.Ile1682Met
NM_001318829.2:c.5046C>G NP_001305758.1:p.Ile1682Met
NM_001318831.1:c.4659C>G NP_001305760.1:p.Ile1553Met
NM_001318831.2:c.4659C>G NP_001305760.1:p.Ile1553Met
NM_001318832.1:c.5223C>G NP_001305761.1:p.Ile1741Met
NM_001318832.2:c.5223C>G NP_001305761.1:p.Ile1741Met
NM_001363528.1:c.5193C>G NP_001350457.1:p.Ile1731Met
NM_001363528.2:c.5193C>G NP_001350457.1:p.Ile1731Met
NM_001370404.1:c.5259C>G NP_001357333.1:p.Ile1753Met
NM_001370405.1:c.5250C>G NP_001357334.1:p.Ile1750Met
NM_021055.2:c.5262C>G NP_066399.2:p.Ile1754Met
NM_021055.3:c.5262C>G NP_066399.2:p.Ile1754Met
ENST00000219476.7:c.5391C>G ENSP00000219476.3:p.Ile1797Met
ENST00000350773.8:c.5322C>G ENSP00000344383.4:p.Ile1774Met
ENST00000350773.9:c.5322C>G ENSP00000344383.4:p.Ile1774Met
ENST00000382538.10:c.5046C>G ENSP00000371978.6:p.Ile1682Met
ENST00000401874.6:c.5190C>G ENSP00000384468.2:p.Ile1730Met
ENST00000401874.7:c.5190C>G ENSP00000384468.2:p.Ile1730Met
ENST00000439117.6:c.*4558C>G ENSP00000406980.2:n.*4558C>G
ENST00000439673.6:c.5082C>G ENSP00000399232.2:p.Ile1694Met
ENST00000497886.5:n.3114C>G
ENST00000568454.5:c.5223C>G ENSP00000454487.1:p.Ile1741Met
ENST00000568454.6:c.5223C>G ENSP00000454487.1:p.Ile1741Met
ENST00000568566.6:c.*3740C>G ENSP00000455997.2:n.*3740C>G
ENST00000569110.1:c.1573C>G
ENST00000569110.2:c.1614C>G
ENST00000569930.1:n.2506C>G
ENST00000569930.2:n.3273C>G
ENST00000642206.2:c.5238C>G ENSP00000495146.2:p.Ile1746Met
ENST00000642365.1:c.4045C>G
ENST00000642365.2:c.5388C>G ENSP00000495459.2:p.Ile1796Met
ENST00000642561.1:c.5250C>G ENSP00000495099.1:p.Ile1750Met
ENST00000642791.1:n.988C>G
ENST00000642797.1:c.5193C>G ENSP00000493846.1:p.Ile1731Met
ENST00000642936.1:c.5259C>G ENSP00000494514.1:p.Ile1753Met
ENST00000643088.1:c.5184C>G ENSP00000494747.1:p.Ile1728Met
ENST00000643426.1:n.3039C>G
ENST00000643946.1:c.5316C>G ENSP00000495927.1:p.Ile1772Met
ENST00000644043.1:c.5262C>G ENSP00000496262.1:p.Ile1754Met
ENST00000644329.1:c.5277C>G ENSP00000496611.1:p.Ile1759Met
ENST00000644335.1:c.5187C>G ENSP00000496317.1:p.Ile1729Met
ENST00000644399.1:c.5312C>G
ENST00000644417.2:c.*5904C>G ENSP00000493912.2:n.*5904C>G
ENST00000645024.1:n.3475C>G
ENST00000646388.1:c.5385C>G ENSP00000495921.1:p.Ile1795Met
ENST00000646464.2:c.*8140C>G ENSP00000496610.2:n.*8140C>G
ENST00000646634.1:n.4206C>G
ENST00000646674.1:n.2643C>G
ENST00000647042.1:n.2614C>G
ENST00000647180.1:n.2504C>G
XM_005255529.3:c.5262C>G XP_005255586.2:p.Ile1754Met
XM_005255531.3:c.5193C>G XP_005255588.2:p.Ile1731Met
XM_005255531.4:c.5193C>G XP_005255588.2:p.Ile1731Met
XM_011522636.1:c.5445C>G XP_011520938.1:p.Ile1815Met
XM_011522636.2:c.5445C>G XP_011520938.1:p.Ile1815Met
XM_011522637.1:c.5442C>G XP_011520939.1:p.Ile1814Met
XM_011522637.2:c.5442C>G XP_011520939.1:p.Ile1814Met
XM_011522638.1:c.5334C>G XP_011520940.1:p.Ile1778Met
XM_011522638.2:c.5607C>G XP_011520940.2:p.Ile1869Met
XM_011522639.1:c.5316C>G XP_011520941.1:p.Ile1772Met
XM_011522639.2:c.5316C>G XP_011520941.1:p.Ile1772Met
XM_011522640.1:c.5313C>G XP_011520942.1:p.Ile1771Met
XM_011522640.2:c.5313C>G XP_011520942.1:p.Ile1771Met
XM_011522641.1:c.5082C>G XP_011520943.1:p.Ile1694Met
XM_017023615.1:c.5388C>G XP_016879104.1:p.Ile1796Met
XM_017023616.1:c.5259C>G XP_016879105.1:p.Ile1753Met
XM_017023617.1:c.5355C>G XP_016879106.1:p.Ile1785Met
XM_017023618.1:c.4101C>G XP_016879107.1:p.Ile1367Met
XM_024450413.1:c.5277C>G XP_024306181.1:p.Ile1759Met