Canonical Allele Identifier: CA276758652
Community Standard Title: NM_000548.5(TSC2):c.5067A>G (p.Lys1689=)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2087940A>G , CM000678.2:g.2087940A>G GRCh38
NC_000016.9:g.2137941A>G , CM000678.1:g.2137941A>G GRCh37
NC_000016.8:g.2077942A>G NCBI36
NG_005895.1:g.43635A>G , LRG_487:g.43635A>G
NG_008617.1:g.55281T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5067A>G MANE Select NP_000539.2:p.Lys1689=
ENST00000219476.9:c.5067A>G MANE Select ENSP00000219476.3:p.Lys1689=
NM_000548.3:c.5067A>G , LRG_487t1:c.5067A>G NP_000539.2:p.Lys1689=
NM_000548.4:c.5067A>G NP_000539.2:p.Lys1689=
NM_001077183.1:c.4866A>G NP_001070651.1:p.Lys1622=
NM_001077183.2:c.4866A>G NP_001070651.1:p.Lys1622=
NM_001077183.3:c.4866A>G NP_001070651.1:p.Lys1622=
NM_001114382.1:c.4998A>G NP_001107854.1:p.Lys1666=
NM_001114382.2:c.4998A>G NP_001107854.1:p.Lys1666=
NM_001114382.3:c.4998A>G NP_001107854.1:p.Lys1666=
NM_001318827.1:c.4758A>G NP_001305756.1:p.Lys1586=
NM_001318827.2:c.4758A>G NP_001305756.1:p.Lys1586=
NM_001318829.1:c.4722A>G NP_001305758.1:p.Lys1574=
NM_001318829.2:c.4722A>G NP_001305758.1:p.Lys1574=
NM_001318831.1:c.4335A>G NP_001305760.1:p.Lys1445=
NM_001318831.2:c.4335A>G NP_001305760.1:p.Lys1445=
NM_001318832.1:c.4899A>G NP_001305761.1:p.Lys1633=
NM_001318832.2:c.4899A>G NP_001305761.1:p.Lys1633=
NM_001363528.1:c.4869A>G NP_001350457.1:p.Lys1623=
NM_001363528.2:c.4869A>G NP_001350457.1:p.Lys1623=
NM_001370404.1:c.4935A>G NP_001357333.1:p.Lys1645=
NM_001370405.1:c.4938A>G NP_001357334.1:p.Lys1646=
NM_021055.2:c.4938A>G NP_066399.2:p.Lys1646=
NM_021055.3:c.4938A>G NP_066399.2:p.Lys1646=
ENST00000219476.7:c.5067A>G ENSP00000219476.3:p.Lys1689=
ENST00000350773.8:c.4998A>G ENSP00000344383.4:p.Lys1666=
ENST00000350773.9:c.4998A>G ENSP00000344383.4:p.Lys1666=
ENST00000382538.10:c.4722A>G ENSP00000371978.6:p.Lys1574=
ENST00000401874.6:c.4866A>G ENSP00000384468.2:p.Lys1622=
ENST00000401874.7:c.4866A>G ENSP00000384468.2:p.Lys1622=
ENST00000439117.6:c.*4234A>G ENSP00000406980.2:n.*4234A>G
ENST00000439673.6:c.4758A>G ENSP00000399232.2:p.Lys1586=
ENST00000497886.5:n.2790A>G
ENST00000568454.5:c.4899A>G ENSP00000454487.1:p.Lys1633=
ENST00000568454.6:c.4899A>G ENSP00000454487.1:p.Lys1633=
ENST00000568566.6:c.*3416A>G ENSP00000455997.2:n.*3416A>G
ENST00000569110.1:c.1249A>G
ENST00000569110.2:c.1290A>G
ENST00000569930.1:n.2182A>G
ENST00000569930.2:n.2949A>G
ENST00000642206.2:c.4914A>G ENSP00000495146.2:p.Lys1638=
ENST00000642365.1:c.3721A>G
ENST00000642365.2:c.5064A>G ENSP00000495459.2:p.Lys1688=
ENST00000642561.1:c.4938A>G ENSP00000495099.1:p.Lys1646=
ENST00000642791.1:n.664A>G
ENST00000642797.1:c.4869A>G ENSP00000493846.1:p.Lys1623=
ENST00000642936.1:c.4935A>G ENSP00000494514.1:p.Lys1645=
ENST00000643088.1:c.4860A>G ENSP00000494747.1:p.Lys1620=
ENST00000643177.1:n.1081A>G
ENST00000643426.1:n.2715A>G
ENST00000643946.1:c.4992A>G ENSP00000495927.1:p.Lys1664=
ENST00000644043.1:c.4938A>G ENSP00000496262.1:p.Lys1646=
ENST00000644278.1:n.549A>G
ENST00000644329.1:c.4866A>G ENSP00000496611.1:p.Lys1622=
ENST00000644335.1:c.4863A>G ENSP00000496317.1:p.Lys1621=
ENST00000644399.1:c.4988A>G
ENST00000644417.2:c.*5580A>G ENSP00000493912.2:n.*5580A>G
ENST00000645024.1:n.3151A>G
ENST00000646388.1:c.5061A>G ENSP00000495921.1:p.Lys1687=
ENST00000646464.2:c.*7816A>G ENSP00000496610.2:n.*7816A>G
ENST00000646634.1:n.3882A>G
ENST00000646674.1:n.2319A>G
ENST00000647042.1:n.2290A>G
ENST00000647180.1:n.2180A>G
XM_005255529.3:c.4938A>G XP_005255586.2:p.Lys1646=
XM_005255531.3:c.4869A>G XP_005255588.2:p.Lys1623=
XM_005255531.4:c.4869A>G XP_005255588.2:p.Lys1623=
XM_011522636.1:c.5121A>G XP_011520938.1:p.Lys1707=
XM_011522636.2:c.5121A>G XP_011520938.1:p.Lys1707=
XM_011522637.1:c.5118A>G XP_011520939.1:p.Lys1706=
XM_011522637.2:c.5118A>G XP_011520939.1:p.Lys1706=
XM_011522638.1:c.5010A>G XP_011520940.1:p.Lys1670=
XM_011522638.2:c.5283A>G XP_011520940.2:p.Lys1761=
XM_011522639.1:c.4992A>G XP_011520941.1:p.Lys1664=
XM_011522639.2:c.4992A>G XP_011520941.1:p.Lys1664=
XM_011522640.1:c.4989A>G XP_011520942.1:p.Lys1663=
XM_011522640.2:c.4989A>G XP_011520942.1:p.Lys1663=
XM_011522641.1:c.4758A>G XP_011520943.1:p.Lys1586=
XM_017023615.1:c.5064A>G XP_016879104.1:p.Lys1688=
XM_017023616.1:c.4935A>G XP_016879105.1:p.Lys1645=
XM_017023617.1:c.5031A>G XP_016879106.1:p.Lys1677=
XM_017023618.1:c.3777A>G XP_016879107.1:p.Lys1259=
XM_024450413.1:c.4866A>G XP_024306181.1:p.Lys1622=