Canonical Allele Identifier: CA276753631
Community Standard Title: NM_000548.5(TSC2):c.4485C>G (p.Ile1495Met)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084707C>G , CM000678.2:g.2084707C>G GRCh38
NC_000016.9:g.2134708C>G , CM000678.1:g.2134708C>G GRCh37
NC_000016.8:g.2074709C>G NCBI36
NG_005895.1:g.40402C>G , LRG_487:g.40402C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4485C>G MANE Select NP_000539.2:p.Ile1495Met
ENST00000219476.9:c.4485C>G MANE Select ENSP00000219476.3:p.Ile1495Met
NM_000548.3:c.4485C>G , LRG_487t1:c.4485C>G NP_000539.2:p.Ile1495Met
NM_000548.4:c.4485C>G NP_000539.2:p.Ile1495Met
NM_001077183.1:c.4284C>G NP_001070651.1:p.Ile1428Met
NM_001077183.2:c.4284C>G NP_001070651.1:p.Ile1428Met
NM_001077183.3:c.4284C>G NP_001070651.1:p.Ile1428Met
NM_001114382.1:c.4416C>G NP_001107854.1:p.Ile1472Met
NM_001114382.2:c.4416C>G NP_001107854.1:p.Ile1472Met
NM_001114382.3:c.4416C>G NP_001107854.1:p.Ile1472Met
NM_001318827.1:c.4176C>G NP_001305756.1:p.Ile1392Met
NM_001318827.2:c.4176C>G NP_001305756.1:p.Ile1392Met
NM_001318829.1:c.4140C>G NP_001305758.1:p.Ile1380Met
NM_001318829.2:c.4140C>G NP_001305758.1:p.Ile1380Met
NM_001318831.1:c.3753C>G NP_001305760.1:p.Ile1251Met
NM_001318831.2:c.3753C>G NP_001305760.1:p.Ile1251Met
NM_001318832.1:c.4317C>G NP_001305761.1:p.Ile1439Met
NM_001318832.2:c.4317C>G NP_001305761.1:p.Ile1439Met
NM_001363528.1:c.4287C>G NP_001350457.1:p.Ile1429Met
NM_001363528.2:c.4287C>G NP_001350457.1:p.Ile1429Met
NM_001370404.1:c.4353C>G NP_001357333.1:p.Ile1451Met
NM_001370405.1:c.4356C>G NP_001357334.1:p.Ile1452Met
NM_021055.2:c.4356C>G NP_066399.2:p.Ile1452Met
NM_021055.3:c.4356C>G NP_066399.2:p.Ile1452Met
ENST00000219476.7:c.4485C>G ENSP00000219476.3:p.Ile1495Met
ENST00000350773.8:c.4416C>G ENSP00000344383.4:p.Ile1472Met
ENST00000350773.9:c.4416C>G ENSP00000344383.4:p.Ile1472Met
ENST00000382538.10:c.4140C>G ENSP00000371978.6:p.Ile1380Met
ENST00000401874.6:c.4284C>G ENSP00000384468.2:p.Ile1428Met
ENST00000401874.7:c.4284C>G ENSP00000384468.2:p.Ile1428Met
ENST00000439117.6:c.*3652C>G ENSP00000406980.2:n.*3652C>G
ENST00000439673.6:c.4176C>G ENSP00000399232.2:p.Ile1392Met
ENST00000497886.5:n.2243C>G
ENST00000568454.5:c.4317C>G ENSP00000454487.1:p.Ile1439Met
ENST00000568454.6:c.4317C>G ENSP00000454487.1:p.Ile1439Met
ENST00000568566.6:c.*2834C>G ENSP00000455997.2:n.*2834C>G
ENST00000569110.1:c.667C>G
ENST00000569110.2:c.716+5C>G
ENST00000569930.1:n.1600C>G
ENST00000569930.2:n.2367C>G
ENST00000642206.2:c.4332C>G ENSP00000495146.2:p.Ile1444Met
ENST00000642365.1:c.3139C>G
ENST00000642365.2:c.4482C>G ENSP00000495459.2:p.Ile1494Met
ENST00000642561.1:c.4356C>G ENSP00000495099.1:p.Ile1452Met
ENST00000642728.1:n.667C>G
ENST00000642797.1:c.4287C>G ENSP00000493846.1:p.Ile1429Met
ENST00000642936.1:c.4353C>G ENSP00000494514.1:p.Ile1451Met
ENST00000643088.1:c.4284C>G ENSP00000494747.1:p.Ile1428Met
ENST00000643177.1:n.499C>G
ENST00000643426.1:n.2133C>G
ENST00000643946.1:c.4416C>G ENSP00000495927.1:p.Ile1472Met
ENST00000644043.1:c.4356C>G ENSP00000496262.1:p.Ile1452Met
ENST00000644329.1:c.4284C>G ENSP00000496611.1:p.Ile1428Met
ENST00000644335.1:c.4287C>G ENSP00000496317.1:p.Ile1429Met
ENST00000644399.1:c.4406C>G
ENST00000644417.2:c.*4865C>G ENSP00000493912.2:n.*4865C>G
ENST00000645024.1:n.2569C>G
ENST00000646388.1:c.4485C>G ENSP00000495921.1:p.Ile1495Met
ENST00000646464.2:c.*7234C>G ENSP00000496610.2:n.*7234C>G
ENST00000646634.1:n.3300C>G
ENST00000646674.1:n.1737C>G
ENST00000647042.1:n.1708C>G
ENST00000647180.1:n.1598C>G
XM_005255529.3:c.4356C>G XP_005255586.2:p.Ile1452Met
XM_005255531.3:c.4287C>G XP_005255588.2:p.Ile1429Met
XM_005255531.4:c.4287C>G XP_005255588.2:p.Ile1429Met
XM_011522636.1:c.4539C>G XP_011520938.1:p.Ile1513Met
XM_011522636.2:c.4539C>G XP_011520938.1:p.Ile1513Met
XM_011522637.1:c.4536C>G XP_011520939.1:p.Ile1512Met
XM_011522637.2:c.4536C>G XP_011520939.1:p.Ile1512Met
XM_011522638.1:c.4428C>G XP_011520940.1:p.Ile1476Met
XM_011522638.2:c.4701C>G XP_011520940.2:p.Ile1567Met
XM_011522639.1:c.4410C>G XP_011520941.1:p.Ile1470Met
XM_011522639.2:c.4410C>G XP_011520941.1:p.Ile1470Met
XM_011522640.1:c.4407C>G XP_011520942.1:p.Ile1469Met
XM_011522640.2:c.4407C>G XP_011520942.1:p.Ile1469Met
XM_011522641.1:c.4176C>G XP_011520943.1:p.Ile1392Met
XM_017023615.1:c.4482C>G XP_016879104.1:p.Ile1494Met
XM_017023616.1:c.4353C>G XP_016879105.1:p.Ile1451Met
XM_017023617.1:c.4449C>G XP_016879106.1:p.Ile1483Met
XM_017023618.1:c.3195C>G XP_016879107.1:p.Ile1065Met
XM_024450413.1:c.4284C>G XP_024306181.1:p.Ile1428Met