Canonical Allele Identifier: CA394311303
Community Standard Title: NM_000548.5(TSC2):c.5030A>C (p.Asp1677Ala)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2087903A>C , CM000678.2:g.2087903A>C GRCh38
NC_000016.9:g.2137904A>C , CM000678.1:g.2137904A>C GRCh37
NC_000016.8:g.2077905A>C NCBI36
NG_005895.1:g.43598A>C , LRG_487:g.43598A>C
NG_008617.1:g.55318T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5030A>C MANE Select NP_000539.2:p.Asp1677Ala
ENST00000219476.9:c.5030A>C MANE Select ENSP00000219476.3:p.Asp1677Ala
NM_000548.3:c.5030A>C , LRG_487t1:c.5030A>C NP_000539.2:p.Asp1677Ala
NM_000548.4:c.5030A>C NP_000539.2:p.Asp1677Ala
NM_001077183.1:c.4829A>C NP_001070651.1:p.Asp1610Ala
NM_001077183.2:c.4829A>C NP_001070651.1:p.Asp1610Ala
NM_001077183.3:c.4829A>C NP_001070651.1:p.Asp1610Ala
NM_001114382.1:c.4961A>C NP_001107854.1:p.Asp1654Ala
NM_001114382.2:c.4961A>C NP_001107854.1:p.Asp1654Ala
NM_001114382.3:c.4961A>C NP_001107854.1:p.Asp1654Ala
NM_001318827.1:c.4721A>C NP_001305756.1:p.Asp1574Ala
NM_001318827.2:c.4721A>C NP_001305756.1:p.Asp1574Ala
NM_001318829.1:c.4685A>C NP_001305758.1:p.Asp1562Ala
NM_001318829.2:c.4685A>C NP_001305758.1:p.Asp1562Ala
NM_001318831.1:c.4298A>C NP_001305760.1:p.Asp1433Ala
NM_001318831.2:c.4298A>C NP_001305760.1:p.Asp1433Ala
NM_001318832.1:c.4862A>C NP_001305761.1:p.Asp1621Ala
NM_001318832.2:c.4862A>C NP_001305761.1:p.Asp1621Ala
NM_001363528.1:c.4832A>C NP_001350457.1:p.Asp1611Ala
NM_001363528.2:c.4832A>C NP_001350457.1:p.Asp1611Ala
NM_001370404.1:c.4898A>C NP_001357333.1:p.Asp1633Ala
NM_001370405.1:c.4901A>C NP_001357334.1:p.Asp1634Ala
NM_021055.2:c.4901A>C NP_066399.2:p.Asp1634Ala
NM_021055.3:c.4901A>C NP_066399.2:p.Asp1634Ala
ENST00000219476.7:c.5030A>C ENSP00000219476.3:p.Asp1677Ala
ENST00000350773.8:c.4961A>C ENSP00000344383.4:p.Asp1654Ala
ENST00000350773.9:c.4961A>C ENSP00000344383.4:p.Asp1654Ala
ENST00000382538.10:c.4685A>C ENSP00000371978.6:p.Asp1562Ala
ENST00000401874.6:c.4829A>C ENSP00000384468.2:p.Asp1610Ala
ENST00000401874.7:c.4829A>C ENSP00000384468.2:p.Asp1610Ala
ENST00000439117.6:c.*4197A>C ENSP00000406980.2:n.*4197A>C
ENST00000439673.6:c.4721A>C ENSP00000399232.2:p.Asp1574Ala
ENST00000497886.5:n.2753A>C
ENST00000568454.5:c.4862A>C ENSP00000454487.1:p.Asp1621Ala
ENST00000568454.6:c.4862A>C ENSP00000454487.1:p.Asp1621Ala
ENST00000568566.6:c.*3379A>C ENSP00000455997.2:n.*3379A>C
ENST00000569110.1:c.1212A>C
ENST00000569110.2:c.1253A>C
ENST00000569930.1:n.2145A>C
ENST00000569930.2:n.2912A>C
ENST00000642206.2:c.4877A>C ENSP00000495146.2:p.Asp1626Ala
ENST00000642365.1:c.3684A>C
ENST00000642365.2:c.5027A>C ENSP00000495459.2:p.Asp1676Ala
ENST00000642561.1:c.4901A>C ENSP00000495099.1:p.Asp1634Ala
ENST00000642791.1:n.627A>C
ENST00000642797.1:c.4832A>C ENSP00000493846.1:p.Asp1611Ala
ENST00000642936.1:c.4898A>C ENSP00000494514.1:p.Asp1633Ala
ENST00000643088.1:c.4823A>C ENSP00000494747.1:p.Asp1608Ala
ENST00000643177.1:n.1044A>C
ENST00000643426.1:n.2678A>C
ENST00000643946.1:c.4955A>C ENSP00000495927.1:p.Asp1652Ala
ENST00000644043.1:c.4901A>C ENSP00000496262.1:p.Asp1634Ala
ENST00000644278.1:n.512A>C
ENST00000644329.1:c.4829A>C ENSP00000496611.1:p.Asp1610Ala
ENST00000644335.1:c.4826A>C ENSP00000496317.1:p.Asp1609Ala
ENST00000644399.1:c.4951A>C
ENST00000644417.2:c.*5543A>C ENSP00000493912.2:n.*5543A>C
ENST00000645024.1:n.3114A>C
ENST00000646388.1:c.5024A>C ENSP00000495921.1:p.Asp1675Ala
ENST00000646464.2:c.*7779A>C ENSP00000496610.2:n.*7779A>C
ENST00000646634.1:n.3845A>C
ENST00000646674.1:n.2282A>C
ENST00000647042.1:n.2253A>C
ENST00000647180.1:n.2143A>C
XM_005255529.3:c.4901A>C XP_005255586.2:p.Asp1634Ala
XM_005255531.3:c.4832A>C XP_005255588.2:p.Asp1611Ala
XM_005255531.4:c.4832A>C XP_005255588.2:p.Asp1611Ala
XM_011522636.1:c.5084A>C XP_011520938.1:p.Asp1695Ala
XM_011522636.2:c.5084A>C XP_011520938.1:p.Asp1695Ala
XM_011522637.1:c.5081A>C XP_011520939.1:p.Asp1694Ala
XM_011522637.2:c.5081A>C XP_011520939.1:p.Asp1694Ala
XM_011522638.1:c.4973A>C XP_011520940.1:p.Asp1658Ala
XM_011522638.2:c.5246A>C XP_011520940.2:p.Asp1749Ala
XM_011522639.1:c.4955A>C XP_011520941.1:p.Asp1652Ala
XM_011522639.2:c.4955A>C XP_011520941.1:p.Asp1652Ala
XM_011522640.1:c.4952A>C XP_011520942.1:p.Asp1651Ala
XM_011522640.2:c.4952A>C XP_011520942.1:p.Asp1651Ala
XM_011522641.1:c.4721A>C XP_011520943.1:p.Asp1574Ala
XM_017023615.1:c.5027A>C XP_016879104.1:p.Asp1676Ala
XM_017023616.1:c.4898A>C XP_016879105.1:p.Asp1633Ala
XM_017023617.1:c.4994A>C XP_016879106.1:p.Asp1665Ala
XM_017023618.1:c.3740A>C XP_016879107.1:p.Asp1247Ala
XM_024450413.1:c.4829A>C XP_024306181.1:p.Asp1610Ala