Canonical Allele Identifier: CA394314407

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138282A>C (hg19) ; chr16:g.2088281A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088281A>C , CM000678.2:g.2088281A>C	GRCh38
NC_000016.9:g.2138282A>C , CM000678.1:g.2138282A>C	GRCh37
NC_000016.8:g.2078283A>C	NCBI36
NG_005895.1:g.43976A>C , LRG_487:g.43976A>C
NG_008617.1:g.54940T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3564A>C	ENSP00000455997.2:n.*3564A>C
ENST00000642206.2:c.5062A>C	ENSP00000495146.2:p.Lys1688Gln
ENST00000642365.2:c.5212A>C	ENSP00000495459.2:p.Lys1738Gln
ENST00000644417.2:c.*5728A>C	ENSP00000493912.2:n.*5728A>C
ENST00000646464.2:c.*7964A>C	ENSP00000496610.2:n.*7964A>C
ENST00000219476.9:c.5215A>C MANE Select	ENSP00000219476.3:p.Lys1739Gln
ENST00000350773.9:c.5146A>C	ENSP00000344383.4:p.Lys1716Gln
ENST00000401874.7:c.5014A>C	ENSP00000384468.2:p.Lys1672Gln
ENST00000568454.6:c.5047A>C	ENSP00000454487.1:p.Lys1683Gln
ENST00000569110.2:c.1438A>C
ENST00000569930.2:n.3097A>C
ENST00000642365.1:c.3869A>C
ENST00000642561.1:c.5074A>C	ENSP00000495099.1:p.Lys1692Gln
ENST00000642791.1:n.812A>C
ENST00000642797.1:c.5017A>C	ENSP00000493846.1:p.Lys1673Gln
ENST00000642936.1:c.5083A>C	ENSP00000494514.1:p.Lys1695Gln
ENST00000643088.1:c.5008A>C	ENSP00000494747.1:p.Lys1670Gln
ENST00000643426.1:n.2863A>C
ENST00000643946.1:c.5140A>C	ENSP00000495927.1:p.Lys1714Gln
ENST00000644043.1:c.5086A>C	ENSP00000496262.1:p.Lys1696Gln
ENST00000644329.1:c.5101A>C	ENSP00000496611.1:p.Lys1701Gln
ENST00000644335.1:c.5011A>C	ENSP00000496317.1:p.Lys1671Gln
ENST00000644399.1:c.5136A>C
ENST00000645024.1:n.3299A>C
ENST00000646388.1:c.5209A>C	ENSP00000495921.1:p.Lys1737Gln
ENST00000646634.1:n.4030A>C
ENST00000646674.1:n.2467A>C
ENST00000647042.1:n.2438A>C
ENST00000647180.1:n.2328A>C
ENST00000219476.7:c.5215A>C	ENSP00000219476.3:p.Lys1739Gln
ENST00000350773.8:c.5146A>C	ENSP00000344383.4:p.Lys1716Gln
ENST00000382538.10:c.4870A>C	ENSP00000371978.6:p.Lys1624Gln
ENST00000401874.6:c.5014A>C	ENSP00000384468.2:p.Lys1672Gln
ENST00000439117.6:c.*4382A>C	ENSP00000406980.2:n.*4382A>C
ENST00000439673.6:c.4906A>C	ENSP00000399232.2:p.Lys1636Gln
ENST00000497886.5:n.2938A>C
ENST00000568454.5:c.5047A>C	ENSP00000454487.1:p.Lys1683Gln
ENST00000569110.1:c.1397A>C
ENST00000569930.1:n.2330A>C
NM_000548.3:c.5215A>C , LRG_487t1:c.5215A>C	NP_000539.2:p.Lys1739Gln
NM_001077183.1:c.5014A>C	NP_001070651.1:p.Lys1672Gln
NM_001114382.1:c.5146A>C	NP_001107854.1:p.Lys1716Gln
XM_005255529.3:c.5086A>C	XP_005255586.2:p.Lys1696Gln
XM_005255531.3:c.5017A>C	XP_005255588.2:p.Lys1673Gln
XM_011522636.1:c.5269A>C	XP_011520938.1:p.Lys1757Gln
XM_011522637.1:c.5266A>C	XP_011520939.1:p.Lys1756Gln
XM_011522638.1:c.5158A>C	XP_011520940.1:p.Lys1720Gln
XM_011522639.1:c.5140A>C	XP_011520941.1:p.Lys1714Gln
XM_011522640.1:c.5137A>C	XP_011520942.1:p.Lys1713Gln
XM_011522641.1:c.4906A>C	XP_011520943.1:p.Lys1636Gln
NM_000548.4:c.5215A>C	NP_000539.2:p.Lys1739Gln
NM_001077183.2:c.5014A>C	NP_001070651.1:p.Lys1672Gln
NM_001114382.2:c.5146A>C	NP_001107854.1:p.Lys1716Gln
NM_001318827.1:c.4906A>C	NP_001305756.1:p.Lys1636Gln
NM_001318829.1:c.4870A>C	NP_001305758.1:p.Lys1624Gln
NM_001318831.1:c.4483A>C	NP_001305760.1:p.Lys1495Gln
NM_001318832.1:c.5047A>C	NP_001305761.1:p.Lys1683Gln
NM_001363528.1:c.5017A>C	NP_001350457.1:p.Lys1673Gln
NM_021055.2:c.5086A>C	NP_066399.2:p.Lys1696Gln
XM_005255531.4:c.5017A>C	XP_005255588.2:p.Lys1673Gln
XM_011522636.2:c.5269A>C	XP_011520938.1:p.Lys1757Gln
XM_011522637.2:c.5266A>C	XP_011520939.1:p.Lys1756Gln
XM_011522638.2:c.5431A>C	XP_011520940.2:p.Lys1811Gln
XM_011522639.2:c.5140A>C	XP_011520941.1:p.Lys1714Gln
XM_011522640.2:c.5137A>C	XP_011520942.1:p.Lys1713Gln
XM_017023615.1:c.5212A>C	XP_016879104.1:p.Lys1738Gln
XM_017023616.1:c.5083A>C	XP_016879105.1:p.Lys1695Gln
XM_017023617.1:c.5179A>C	XP_016879106.1:p.Lys1727Gln
XM_017023618.1:c.3925A>C	XP_016879107.1:p.Lys1309Gln
XM_024450413.1:c.5101A>C	XP_024306181.1:p.Lys1701Gln
NM_000548.5:c.5215A>C MANE Select	NP_000539.2:p.Lys1739Gln
NM_001370404.1:c.5083A>C	NP_001357333.1:p.Lys1695Gln
NM_001370405.1:c.5074A>C	NP_001357334.1:p.Lys1692Gln
NM_001077183.3:c.5014A>C	NP_001070651.1:p.Lys1672Gln
NM_001114382.3:c.5146A>C	NP_001107854.1:p.Lys1716Gln
NM_001318827.2:c.4906A>C	NP_001305756.1:p.Lys1636Gln
NM_001318829.2:c.4870A>C	NP_001305758.1:p.Lys1624Gln
NM_001318831.2:c.4483A>C	NP_001305760.1:p.Lys1495Gln
NM_001318832.2:c.5047A>C	NP_001305761.1:p.Lys1683Gln
NM_001363528.2:c.5017A>C	NP_001350457.1:p.Lys1673Gln
NM_021055.3:c.5086A>C	NP_066399.2:p.Lys1696Gln