Canonical Allele Identifier: CA022096
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49867
dbSNP Id: rs45517409
gnomAD v2: 16-2138252-C-T
gnomAD v3: 16-2088251-C-T
gnomAD v4: 16-2088251-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088251C>T , CM000678.2:g.2088251C>T GRCh38
NC_000016.9:g.2138252C>T , CM000678.1:g.2138252C>T GRCh37
NC_000016.8:g.2078253C>T NCBI36
NG_005895.1:g.43946C>T , LRG_487:g.43946C>T
NG_008617.1:g.54970G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3534C>T ENSP00000455997.2:n.*3534C>T
ENST00000642206.2:c.5032C>T ENSP00000495146.2:p.Arg1678Cys
ENST00000642365.2:c.5182C>T ENSP00000495459.2:p.Arg1728Cys
ENST00000644417.2:c.*5698C>T ENSP00000493912.2:n.*5698C>T
ENST00000646464.2:c.*7934C>T ENSP00000496610.2:n.*7934C>T
ENST00000219476.9:c.5185C>T MANE Select ENSP00000219476.3:p.Arg1729Cys
ENST00000350773.9:c.5116C>T ENSP00000344383.4:p.Arg1706Cys
ENST00000401874.7:c.4984C>T ENSP00000384468.2:p.Arg1662Cys
ENST00000568454.6:c.5017C>T ENSP00000454487.1:p.Arg1673Cys
ENST00000569110.2:c.1408C>T
ENST00000569930.2:n.3067C>T
ENST00000642365.1:c.3839C>T
ENST00000642561.1:c.5044C>T ENSP00000495099.1:p.Arg1682Cys
ENST00000642791.1:n.782C>T
ENST00000642797.1:c.4987C>T ENSP00000493846.1:p.Arg1663Cys
ENST00000642936.1:c.5053C>T ENSP00000494514.1:p.Arg1685Cys
ENST00000643088.1:c.4978C>T ENSP00000494747.1:p.Arg1660Cys
ENST00000643426.1:n.2833C>T
ENST00000643946.1:c.5110C>T ENSP00000495927.1:p.Arg1704Cys
ENST00000644043.1:c.5056C>T ENSP00000496262.1:p.Arg1686Cys
ENST00000644329.1:c.5071C>T ENSP00000496611.1:p.Arg1691Cys
ENST00000644335.1:c.4981C>T ENSP00000496317.1:p.Arg1661Cys
ENST00000644399.1:c.5106C>T
ENST00000645024.1:n.3269C>T
ENST00000646388.1:c.5179C>T ENSP00000495921.1:p.Arg1727Cys
ENST00000646634.1:n.4000C>T
ENST00000646674.1:n.2437C>T
ENST00000647042.1:n.2408C>T
ENST00000647180.1:n.2298C>T
ENST00000219476.7:c.5185C>T ENSP00000219476.3:p.Arg1729Cys
ENST00000350773.8:c.5116C>T ENSP00000344383.4:p.Arg1706Cys
ENST00000382538.10:c.4840C>T ENSP00000371978.6:p.Arg1614Cys
ENST00000401874.6:c.4984C>T ENSP00000384468.2:p.Arg1662Cys
ENST00000439117.6:c.*4352C>T ENSP00000406980.2:n.*4352C>T
ENST00000439673.6:c.4876C>T ENSP00000399232.2:p.Arg1626Cys
ENST00000497886.5:n.2908C>T
ENST00000568454.5:c.5017C>T ENSP00000454487.1:p.Arg1673Cys
ENST00000569110.1:c.1367C>T
ENST00000569930.1:n.2300C>T
NM_000548.3:c.5185C>T , LRG_487t1:c.5185C>T NP_000539.2:p.Arg1729Cys
NM_001077183.1:c.4984C>T NP_001070651.1:p.Arg1662Cys
NM_001114382.1:c.5116C>T NP_001107854.1:p.Arg1706Cys
XM_005255529.3:c.5056C>T XP_005255586.2:p.Arg1686Cys
XM_005255531.3:c.4987C>T XP_005255588.2:p.Arg1663Cys
XM_011522636.1:c.5239C>T XP_011520938.1:p.Arg1747Cys
XM_011522637.1:c.5236C>T XP_011520939.1:p.Arg1746Cys
XM_011522638.1:c.5128C>T XP_011520940.1:p.Arg1710Cys
XM_011522639.1:c.5110C>T XP_011520941.1:p.Arg1704Cys
XM_011522640.1:c.5107C>T XP_011520942.1:p.Arg1703Cys
XM_011522641.1:c.4876C>T XP_011520943.1:p.Arg1626Cys
NM_000548.4:c.5185C>T NP_000539.2:p.Arg1729Cys
NM_001077183.2:c.4984C>T NP_001070651.1:p.Arg1662Cys
NM_001114382.2:c.5116C>T NP_001107854.1:p.Arg1706Cys
NM_001318827.1:c.4876C>T NP_001305756.1:p.Arg1626Cys
NM_001318829.1:c.4840C>T NP_001305758.1:p.Arg1614Cys
NM_001318831.1:c.4453C>T NP_001305760.1:p.Arg1485Cys
NM_001318832.1:c.5017C>T NP_001305761.1:p.Arg1673Cys
NM_001363528.1:c.4987C>T NP_001350457.1:p.Arg1663Cys
NM_021055.2:c.5056C>T NP_066399.2:p.Arg1686Cys
XM_005255531.4:c.4987C>T XP_005255588.2:p.Arg1663Cys
XM_011522636.2:c.5239C>T XP_011520938.1:p.Arg1747Cys
XM_011522637.2:c.5236C>T XP_011520939.1:p.Arg1746Cys
XM_011522638.2:c.5401C>T XP_011520940.2:p.Arg1801Cys
XM_011522639.2:c.5110C>T XP_011520941.1:p.Arg1704Cys
XM_011522640.2:c.5107C>T XP_011520942.1:p.Arg1703Cys
XM_017023615.1:c.5182C>T XP_016879104.1:p.Arg1728Cys
XM_017023616.1:c.5053C>T XP_016879105.1:p.Arg1685Cys
XM_017023617.1:c.5149C>T XP_016879106.1:p.Arg1717Cys
XM_017023618.1:c.3895C>T XP_016879107.1:p.Arg1299Cys
XM_024450413.1:c.5071C>T XP_024306181.1:p.Arg1691Cys
NM_000548.5:c.5185C>T MANE Select NP_000539.2:p.Arg1729Cys
NM_001370404.1:c.5053C>T NP_001357333.1:p.Arg1685Cys
NM_001370405.1:c.5044C>T NP_001357334.1:p.Arg1682Cys
NM_001077183.3:c.4984C>T NP_001070651.1:p.Arg1662Cys
NM_001114382.3:c.5116C>T NP_001107854.1:p.Arg1706Cys
NM_001318827.2:c.4876C>T NP_001305756.1:p.Arg1626Cys
NM_001318829.2:c.4840C>T NP_001305758.1:p.Arg1614Cys
NM_001318831.2:c.4453C>T NP_001305760.1:p.Arg1485Cys
NM_001318832.2:c.5017C>T NP_001305761.1:p.Arg1673Cys
NM_001363528.2:c.4987C>T NP_001350457.1:p.Arg1663Cys
NM_021055.3:c.5056C>T NP_066399.2:p.Arg1686Cys