Canonical Allele Identifier: CA10647139
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2048008A>G , CM000678.2:g.2048008A>G GRCh38
NC_000016.9:g.2098009A>G , CM000678.1:g.2098009A>G GRCh37
NC_000016.8:g.2038010A>G NCBI36
NG_005895.1:g.3703A>G , LRG_487:g.3703A>G
NG_008412.1:g.4859T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.-87A>G ENSP00000455997.2:n.-87A>G
ENST00000642206.2:c.-87A>G ENSP00000495146.2:n.-87A>G
ENST00000644417.2:c.-87A>G ENSP00000493912.2:n.-87A>G
ENST00000646464.2:c.-87A>G ENSP00000496610.2:n.-87A>G
ENST00000219476.9:c.-87A>G MANE Select ENSP00000219476.3:n.-87A>G
ENST00000401874.7:c.-87A>G ENSP00000384468.2:n.-87A>G
ENST00000461648.3:n.24A>G
ENST00000642936.1:c.-87A>G ENSP00000494514.1:n.-87A>G
ENST00000643088.1:c.-87A>G ENSP00000494747.1:n.-87A>G
ENST00000643149.1:n.24A>G
ENST00000643745.1:c.-87A>G ENSP00000495948.1:n.-87A>G
ENST00000643946.1:c.-87A>G ENSP00000495927.1:n.-87A>G
ENST00000644135.1:c.-87A>G ENSP00000495644.1:n.-87A>G
ENST00000644222.1:n.1A>G
ENST00000644335.1:c.-87A>G ENSP00000496317.1:n.-87A>G
ENST00000644665.1:n.31A>G
ENST00000645591.1:n.42A>G
ENST00000219476.7:c.-87A>G ENSP00000219476.3:n.-87A>G
ENST00000382538.10:c.-67A>G ENSP00000371978.6:n.-67A>G
ENST00000401874.6:c.-87A>G ENSP00000384468.2:n.-87A>G
ENST00000461648.2:n.19A>G
NM_000548.3:c.-87A>G , LRG_487t1:c.-87A>G NP_000539.2:n.-87A>G
NM_001077183.1:c.-87A>G NP_001070651.1:n.-87A>G
NM_001114382.1:c.-87A>G NP_001107854.1:n.-87A>G
XM_005255529.3:c.-87A>G XP_005255586.2:n.-87A>G
XM_005255531.3:c.-87A>G XP_005255588.2:n.-87A>G
XM_011522636.1:c.-87A>G XP_011520938.1:n.-87A>G
XM_011522637.1:c.-87A>G XP_011520939.1:n.-87A>G
XM_011522638.1:c.-87A>G XP_011520940.1:n.-87A>G
XM_011522639.1:c.-87A>G XP_011520941.1:n.-87A>G
XM_011522640.1:c.-87A>G XP_011520942.1:n.-87A>G
XM_011522641.1:c.-87A>G XP_011520943.1:n.-87A>G
NM_000548.4:c.-87A>G NP_000539.2:n.-87A>G
NM_001077183.2:c.-87A>G NP_001070651.1:n.-87A>G
NM_001114382.2:c.-87A>G NP_001107854.1:n.-87A>G
NM_001318827.1:c.-87A>G NP_001305756.1:n.-87A>G
NM_001318829.1:c.-67A>G NP_001305758.1:n.-67A>G
NM_001318831.1:c.-313A>G NP_001305760.1:n.-313A>G
NM_001363528.1:c.-87A>G NP_001350457.1:n.-87A>G
NM_021055.2:c.-87A>G NP_066399.2:n.-87A>G
XM_005255531.4:c.-87A>G XP_005255588.2:n.-87A>G
XM_011522636.2:c.-87A>G XP_011520938.1:n.-87A>G
XM_011522637.2:c.-87A>G XP_011520939.1:n.-87A>G
XM_011522638.2:c.187A>G XP_011520940.2:p.Arg63Gly
XM_011522639.2:c.-87A>G XP_011520941.1:n.-87A>G
XM_011522640.2:c.-87A>G XP_011520942.1:n.-87A>G
XM_017023615.1:c.-87A>G XP_016879104.1:n.-87A>G
XM_017023616.1:c.-87A>G XP_016879105.1:n.-87A>G
XM_017023617.1:c.187A>G XP_016879106.1:p.Arg63Gly
XM_017023618.1:c.-1518A>G XP_016879107.1:n.-1518A>G
XM_024450413.1:c.-87A>G XP_024306181.1:n.-87A>G
NM_000548.5:c.-87A>G MANE Select NP_000539.2:n.-87A>G
NM_001370404.1:c.-87A>G NP_001357333.1:n.-87A>G
NM_001370405.1:c.-87A>G NP_001357334.1:n.-87A>G
NM_001077183.3:c.-87A>G NP_001070651.1:n.-87A>G
NM_001114382.3:c.-87A>G NP_001107854.1:n.-87A>G
NM_001318827.2:c.-87A>G NP_001305756.1:n.-87A>G
NM_001318829.2:c.-67A>G NP_001305758.1:n.-67A>G
NM_001318831.2:c.-313A>G NP_001305760.1:n.-313A>G
NM_001363528.2:c.-87A>G NP_001350457.1:n.-87A>G
NM_021055.3:c.-87A>G NP_066399.2:n.-87A>G