Canonical Allele Identifier: CA394314109

Gene: TSC2

Linked Data

• dbSNP Id: rs1596460117
• MyVariant Identifiers: chr16:g.2138250G>C (hg19) ; chr16:g.2088249G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088249G>C , CM000678.2:g.2088249G>C	GRCh38
NC_000016.9:g.2138250G>C , CM000678.1:g.2138250G>C	GRCh37
NC_000016.8:g.2078251G>C	NCBI36
NG_005895.1:g.43944G>C , LRG_487:g.43944G>C
NG_008617.1:g.54972C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3532G>C	ENSP00000455997.2:n.*3532G>C
ENST00000642206.2:c.5030G>C	ENSP00000495146.2:p.Ser1677Thr
ENST00000642365.2:c.5180G>C	ENSP00000495459.2:p.Ser1727Thr
ENST00000644417.2:c.*5696G>C	ENSP00000493912.2:n.*5696G>C
ENST00000646464.2:c.*7932G>C	ENSP00000496610.2:n.*7932G>C
ENST00000219476.9:c.5183G>C MANE Select	ENSP00000219476.3:p.Ser1728Thr
ENST00000350773.9:c.5114G>C	ENSP00000344383.4:p.Ser1705Thr
ENST00000401874.7:c.4982G>C	ENSP00000384468.2:p.Ser1661Thr
ENST00000568454.6:c.5015G>C	ENSP00000454487.1:p.Ser1672Thr
ENST00000569110.2:c.1406G>C
ENST00000569930.2:n.3065G>C
ENST00000642365.1:c.3837G>C
ENST00000642561.1:c.5042G>C	ENSP00000495099.1:p.Ser1681Thr
ENST00000642791.1:n.780G>C
ENST00000642797.1:c.4985G>C	ENSP00000493846.1:p.Ser1662Thr
ENST00000642936.1:c.5051G>C	ENSP00000494514.1:p.Ser1684Thr
ENST00000643088.1:c.4976G>C	ENSP00000494747.1:p.Ser1659Thr
ENST00000643426.1:n.2831G>C
ENST00000643946.1:c.5108G>C	ENSP00000495927.1:p.Ser1703Thr
ENST00000644043.1:c.5054G>C	ENSP00000496262.1:p.Ser1685Thr
ENST00000644329.1:c.5069G>C	ENSP00000496611.1:p.Ser1690Thr
ENST00000644335.1:c.4979G>C	ENSP00000496317.1:p.Ser1660Thr
ENST00000644399.1:c.5104G>C
ENST00000645024.1:n.3267G>C
ENST00000646388.1:c.5177G>C	ENSP00000495921.1:p.Ser1726Thr
ENST00000646634.1:n.3998G>C
ENST00000646674.1:n.2435G>C
ENST00000647042.1:n.2406G>C
ENST00000647180.1:n.2296G>C
ENST00000219476.7:c.5183G>C	ENSP00000219476.3:p.Ser1728Thr
ENST00000350773.8:c.5114G>C	ENSP00000344383.4:p.Ser1705Thr
ENST00000382538.10:c.4838G>C	ENSP00000371978.6:p.Ser1613Thr
ENST00000401874.6:c.4982G>C	ENSP00000384468.2:p.Ser1661Thr
ENST00000439117.6:c.*4350G>C	ENSP00000406980.2:n.*4350G>C
ENST00000439673.6:c.4874G>C	ENSP00000399232.2:p.Ser1625Thr
ENST00000497886.5:n.2906G>C
ENST00000568454.5:c.5015G>C	ENSP00000454487.1:p.Ser1672Thr
ENST00000569110.1:c.1365G>C
ENST00000569930.1:n.2298G>C
NM_000548.3:c.5183G>C , LRG_487t1:c.5183G>C	NP_000539.2:p.Ser1728Thr
NM_001077183.1:c.4982G>C	NP_001070651.1:p.Ser1661Thr
NM_001114382.1:c.5114G>C	NP_001107854.1:p.Ser1705Thr
XM_005255529.3:c.5054G>C	XP_005255586.2:p.Ser1685Thr
XM_005255531.3:c.4985G>C	XP_005255588.2:p.Ser1662Thr
XM_011522636.1:c.5237G>C	XP_011520938.1:p.Ser1746Thr
XM_011522637.1:c.5234G>C	XP_011520939.1:p.Ser1745Thr
XM_011522638.1:c.5126G>C	XP_011520940.1:p.Ser1709Thr
XM_011522639.1:c.5108G>C	XP_011520941.1:p.Ser1703Thr
XM_011522640.1:c.5105G>C	XP_011520942.1:p.Ser1702Thr
XM_011522641.1:c.4874G>C	XP_011520943.1:p.Ser1625Thr
NM_000548.4:c.5183G>C	NP_000539.2:p.Ser1728Thr
NM_001077183.2:c.4982G>C	NP_001070651.1:p.Ser1661Thr
NM_001114382.2:c.5114G>C	NP_001107854.1:p.Ser1705Thr
NM_001318827.1:c.4874G>C	NP_001305756.1:p.Ser1625Thr
NM_001318829.1:c.4838G>C	NP_001305758.1:p.Ser1613Thr
NM_001318831.1:c.4451G>C	NP_001305760.1:p.Ser1484Thr
NM_001318832.1:c.5015G>C	NP_001305761.1:p.Ser1672Thr
NM_001363528.1:c.4985G>C	NP_001350457.1:p.Ser1662Thr
NM_021055.2:c.5054G>C	NP_066399.2:p.Ser1685Thr
XM_005255531.4:c.4985G>C	XP_005255588.2:p.Ser1662Thr
XM_011522636.2:c.5237G>C	XP_011520938.1:p.Ser1746Thr
XM_011522637.2:c.5234G>C	XP_011520939.1:p.Ser1745Thr
XM_011522638.2:c.5399G>C	XP_011520940.2:p.Ser1800Thr
XM_011522639.2:c.5108G>C	XP_011520941.1:p.Ser1703Thr
XM_011522640.2:c.5105G>C	XP_011520942.1:p.Ser1702Thr
XM_017023615.1:c.5180G>C	XP_016879104.1:p.Ser1727Thr
XM_017023616.1:c.5051G>C	XP_016879105.1:p.Ser1684Thr
XM_017023617.1:c.5147G>C	XP_016879106.1:p.Ser1716Thr
XM_017023618.1:c.3893G>C	XP_016879107.1:p.Ser1298Thr
XM_024450413.1:c.5069G>C	XP_024306181.1:p.Ser1690Thr
NM_000548.5:c.5183G>C MANE Select	NP_000539.2:p.Ser1728Thr
NM_001370404.1:c.5051G>C	NP_001357333.1:p.Ser1684Thr
NM_001370405.1:c.5042G>C	NP_001357334.1:p.Ser1681Thr
NM_001077183.3:c.4982G>C	NP_001070651.1:p.Ser1661Thr
NM_001114382.3:c.5114G>C	NP_001107854.1:p.Ser1705Thr
NM_001318827.2:c.4874G>C	NP_001305756.1:p.Ser1625Thr
NM_001318829.2:c.4838G>C	NP_001305758.1:p.Ser1613Thr
NM_001318831.2:c.4451G>C	NP_001305760.1:p.Ser1484Thr
NM_001318832.2:c.5015G>C	NP_001305761.1:p.Ser1672Thr
NM_001363528.2:c.4985G>C	NP_001350457.1:p.Ser1662Thr
NM_021055.3:c.5054G>C	NP_066399.2:p.Ser1685Thr