Canonical Allele Identifier: CA10603520

Gene: TSC2

Linked Data

• ClinVar Variation Id: 280774
• ClinVar RCV Id: RCV000403179 ; RCV000550192
• dbSNP Id: rs886041919
• MyVariant Identifiers: chr16:g.2135255C>T (hg19) ; chr16:g.2085254C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085254C>T , CM000678.2:g.2085254C>T	GRCh38
NC_000016.9:g.2135255C>T , CM000678.1:g.2135255C>T	GRCh37
NC_000016.8:g.2075256C>T	NCBI36
NG_005895.1:g.40949C>T , LRG_487:g.40949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2943C>T	ENSP00000455997.2:n.*2943C>T
ENST00000642206.2:c.4441C>T	ENSP00000495146.2:p.Gln1481Ter
ENST00000642365.2:c.4591C>T	ENSP00000495459.2:p.Gln1531Ter
ENST00000644417.2:c.*4974C>T	ENSP00000493912.2:n.*4974C>T
ENST00000646464.2:c.*7343C>T	ENSP00000496610.2:n.*7343C>T
ENST00000219476.9:c.4594C>T MANE Select	ENSP00000219476.3:p.Gln1532Ter
ENST00000350773.9:c.4525C>T	ENSP00000344383.4:p.Gln1509Ter
ENST00000401874.7:c.4393C>T	ENSP00000384468.2:p.Gln1465Ter
ENST00000568454.6:c.4426C>T	ENSP00000454487.1:p.Gln1476Ter
ENST00000569110.2:c.817C>T
ENST00000569930.2:n.2476C>T
ENST00000642365.1:c.3248C>T
ENST00000642561.1:c.4465C>T	ENSP00000495099.1:p.Gln1489Ter
ENST00000642728.1:n.776C>T
ENST00000642791.1:n.191C>T
ENST00000642797.1:c.4396C>T	ENSP00000493846.1:p.Gln1466Ter
ENST00000642936.1:c.4462C>T	ENSP00000494514.1:p.Gln1488Ter
ENST00000643088.1:c.4387C>T	ENSP00000494747.1:p.Gln1463Ter
ENST00000643177.1:n.608C>T
ENST00000643426.1:n.2242C>T
ENST00000643946.1:c.4519C>T	ENSP00000495927.1:p.Gln1507Ter
ENST00000644043.1:c.4465C>T	ENSP00000496262.1:p.Gln1489Ter
ENST00000644278.1:n.76C>T
ENST00000644329.1:c.4393C>T	ENSP00000496611.1:p.Gln1465Ter
ENST00000644335.1:c.4390C>T	ENSP00000496317.1:p.Gln1464Ter
ENST00000644399.1:c.4515C>T
ENST00000645024.1:n.2678C>T
ENST00000646388.1:c.4588C>T	ENSP00000495921.1:p.Gln1530Ter
ENST00000646634.1:n.3409C>T
ENST00000646674.1:n.1846C>T
ENST00000647042.1:n.1817C>T
ENST00000647180.1:n.1707C>T
ENST00000219476.7:c.4594C>T	ENSP00000219476.3:p.Gln1532Ter
ENST00000350773.8:c.4525C>T	ENSP00000344383.4:p.Gln1509Ter
ENST00000382538.10:c.4249C>T	ENSP00000371978.6:p.Gln1417Ter
ENST00000401874.6:c.4393C>T	ENSP00000384468.2:p.Gln1465Ter
ENST00000439117.6:c.*3761C>T	ENSP00000406980.2:n.*3761C>T
ENST00000439673.6:c.4285C>T	ENSP00000399232.2:p.Gln1429Ter
ENST00000497886.5:n.2352C>T
ENST00000568454.5:c.4426C>T	ENSP00000454487.1:p.Gln1476Ter
ENST00000569110.1:c.776C>T
ENST00000569930.1:n.1709C>T
NM_000548.3:c.4594C>T , LRG_487t1:c.4594C>T	NP_000539.2:p.Gln1532Ter
NM_001077183.1:c.4393C>T	NP_001070651.1:p.Gln1465Ter
NM_001114382.1:c.4525C>T	NP_001107854.1:p.Gln1509Ter
XM_005255529.3:c.4465C>T	XP_005255586.2:p.Gln1489Ter
XM_005255531.3:c.4396C>T	XP_005255588.2:p.Gln1466Ter
XM_011522636.1:c.4648C>T	XP_011520938.1:p.Gln1550Ter
XM_011522637.1:c.4645C>T	XP_011520939.1:p.Gln1549Ter
XM_011522638.1:c.4537C>T	XP_011520940.1:p.Gln1513Ter
XM_011522639.1:c.4519C>T	XP_011520941.1:p.Gln1507Ter
XM_011522640.1:c.4516C>T	XP_011520942.1:p.Gln1506Ter
XM_011522641.1:c.4285C>T	XP_011520943.1:p.Gln1429Ter
NM_000548.4:c.4594C>T	NP_000539.2:p.Gln1532Ter
NM_001077183.2:c.4393C>T	NP_001070651.1:p.Gln1465Ter
NM_001114382.2:c.4525C>T	NP_001107854.1:p.Gln1509Ter
NM_001318827.1:c.4285C>T	NP_001305756.1:p.Gln1429Ter
NM_001318829.1:c.4249C>T	NP_001305758.1:p.Gln1417Ter
NM_001318831.1:c.3862C>T	NP_001305760.1:p.Gln1288Ter
NM_001318832.1:c.4426C>T	NP_001305761.1:p.Gln1476Ter
NM_001363528.1:c.4396C>T	NP_001350457.1:p.Gln1466Ter
NM_021055.2:c.4465C>T	NP_066399.2:p.Gln1489Ter
XM_005255531.4:c.4396C>T	XP_005255588.2:p.Gln1466Ter
XM_011522636.2:c.4648C>T	XP_011520938.1:p.Gln1550Ter
XM_011522637.2:c.4645C>T	XP_011520939.1:p.Gln1549Ter
XM_011522638.2:c.4810C>T	XP_011520940.2:p.Gln1604Ter
XM_011522639.2:c.4519C>T	XP_011520941.1:p.Gln1507Ter
XM_011522640.2:c.4516C>T	XP_011520942.1:p.Gln1506Ter
XM_017023615.1:c.4591C>T	XP_016879104.1:p.Gln1531Ter
XM_017023616.1:c.4462C>T	XP_016879105.1:p.Gln1488Ter
XM_017023617.1:c.4558C>T	XP_016879106.1:p.Gln1520Ter
XM_017023618.1:c.3304C>T	XP_016879107.1:p.Gln1102Ter
XM_024450413.1:c.4393C>T	XP_024306181.1:p.Gln1465Ter
NM_000548.5:c.4594C>T MANE Select	NP_000539.2:p.Gln1532Ter
NM_001370404.1:c.4462C>T	NP_001357333.1:p.Gln1488Ter
NM_001370405.1:c.4465C>T	NP_001357334.1:p.Gln1489Ter
NM_001077183.3:c.4393C>T	NP_001070651.1:p.Gln1465Ter
NM_001114382.3:c.4525C>T	NP_001107854.1:p.Gln1509Ter
NM_001318827.2:c.4285C>T	NP_001305756.1:p.Gln1429Ter
NM_001318829.2:c.4249C>T	NP_001305758.1:p.Gln1417Ter
NM_001318831.2:c.3862C>T	NP_001305760.1:p.Gln1288Ter
NM_001318832.2:c.4426C>T	NP_001305761.1:p.Gln1476Ter
NM_001363528.2:c.4396C>T	NP_001350457.1:p.Gln1466Ter
NM_021055.3:c.4465C>T	NP_066399.2:p.Gln1489Ter