Canonical Allele Identifier: CA021894

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49352
• ClinVar RCV Id: RCV000042612 ; RCV000190040 ; RCV001797601
• dbSNP Id: rs45517398
• MyVariant Identifiers: chr16:g.2138130T>C (hg19) ; chr16:g.2088129T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088129T>C , CM000678.2:g.2088129T>C	GRCh38
NC_000016.9:g.2138130T>C , CM000678.1:g.2138130T>C	GRCh37
NC_000016.8:g.2078131T>C	NCBI36
NG_005895.1:g.43824T>C , LRG_487:g.43824T>C
NG_008617.1:g.55092A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3499T>C	ENSP00000455997.2:n.*3499T>C
ENST00000642206.2:c.4997T>C	ENSP00000495146.2:p.Leu1666Pro
ENST00000642365.2:c.5147T>C	ENSP00000495459.2:p.Leu1716Pro
ENST00000644417.2:c.*5663T>C	ENSP00000493912.2:n.*5663T>C
ENST00000646464.2:c.*7899T>C	ENSP00000496610.2:n.*7899T>C
ENST00000219476.9:c.5150T>C MANE Select	ENSP00000219476.3:p.Leu1717Pro
ENST00000350773.9:c.5081T>C	ENSP00000344383.4:p.Leu1694Pro
ENST00000401874.7:c.4949T>C	ENSP00000384468.2:p.Leu1650Pro
ENST00000568454.6:c.4982T>C	ENSP00000454487.1:p.Leu1661Pro
ENST00000569110.2:c.1373T>C
ENST00000569930.2:n.3032T>C
ENST00000642365.1:c.3804T>C
ENST00000642561.1:c.5021T>C	ENSP00000495099.1:p.Leu1674Pro
ENST00000642791.1:n.747T>C
ENST00000642797.1:c.4952T>C	ENSP00000493846.1:p.Leu1651Pro
ENST00000642936.1:c.5018T>C	ENSP00000494514.1:p.Leu1673Pro
ENST00000643088.1:c.4943T>C	ENSP00000494747.1:p.Leu1648Pro
ENST00000643426.1:n.2798T>C
ENST00000643946.1:c.5075T>C	ENSP00000495927.1:p.Leu1692Pro
ENST00000644043.1:c.5021T>C	ENSP00000496262.1:p.Leu1674Pro
ENST00000644329.1:c.4949T>C	ENSP00000496611.1:p.Leu1650Pro
ENST00000644335.1:c.4946T>C	ENSP00000496317.1:p.Leu1649Pro
ENST00000644399.1:c.5071T>C
ENST00000645024.1:n.3234T>C
ENST00000646388.1:c.5144T>C	ENSP00000495921.1:p.Leu1715Pro
ENST00000646634.1:n.3965T>C
ENST00000646674.1:n.2402T>C
ENST00000647042.1:n.2373T>C
ENST00000647180.1:n.2263T>C
ENST00000219476.7:c.5150T>C	ENSP00000219476.3:p.Leu1717Pro
ENST00000350773.8:c.5081T>C	ENSP00000344383.4:p.Leu1694Pro
ENST00000382538.10:c.4805T>C	ENSP00000371978.6:p.Leu1602Pro
ENST00000401874.6:c.4949T>C	ENSP00000384468.2:p.Leu1650Pro
ENST00000439117.6:c.*4317T>C	ENSP00000406980.2:n.*4317T>C
ENST00000439673.6:c.4841T>C	ENSP00000399232.2:p.Leu1614Pro
ENST00000497886.5:n.2873T>C
ENST00000568454.5:c.4982T>C	ENSP00000454487.1:p.Leu1661Pro
ENST00000569110.1:c.1332T>C
ENST00000569930.1:n.2265T>C
NM_000548.3:c.5150T>C , LRG_487t1:c.5150T>C	NP_000539.2:p.Leu1717Pro
NM_001077183.1:c.4949T>C	NP_001070651.1:p.Leu1650Pro
NM_001114382.1:c.5081T>C	NP_001107854.1:p.Leu1694Pro
XM_005255529.3:c.5021T>C	XP_005255586.2:p.Leu1674Pro
XM_005255531.3:c.4952T>C	XP_005255588.2:p.Leu1651Pro
XM_011522636.1:c.5204T>C	XP_011520938.1:p.Leu1735Pro
XM_011522637.1:c.5201T>C	XP_011520939.1:p.Leu1734Pro
XM_011522638.1:c.5093T>C	XP_011520940.1:p.Leu1698Pro
XM_011522639.1:c.5075T>C	XP_011520941.1:p.Leu1692Pro
XM_011522640.1:c.5072T>C	XP_011520942.1:p.Leu1691Pro
XM_011522641.1:c.4841T>C	XP_011520943.1:p.Leu1614Pro
NM_000548.4:c.5150T>C	NP_000539.2:p.Leu1717Pro
NM_001077183.2:c.4949T>C	NP_001070651.1:p.Leu1650Pro
NM_001114382.2:c.5081T>C	NP_001107854.1:p.Leu1694Pro
NM_001318827.1:c.4841T>C	NP_001305756.1:p.Leu1614Pro
NM_001318829.1:c.4805T>C	NP_001305758.1:p.Leu1602Pro
NM_001318831.1:c.4418T>C	NP_001305760.1:p.Leu1473Pro
NM_001318832.1:c.4982T>C	NP_001305761.1:p.Leu1661Pro
NM_001363528.1:c.4952T>C	NP_001350457.1:p.Leu1651Pro
NM_021055.2:c.5021T>C	NP_066399.2:p.Leu1674Pro
XM_005255531.4:c.4952T>C	XP_005255588.2:p.Leu1651Pro
XM_011522636.2:c.5204T>C	XP_011520938.1:p.Leu1735Pro
XM_011522637.2:c.5201T>C	XP_011520939.1:p.Leu1734Pro
XM_011522638.2:c.5366T>C	XP_011520940.2:p.Leu1789Pro
XM_011522639.2:c.5075T>C	XP_011520941.1:p.Leu1692Pro
XM_011522640.2:c.5072T>C	XP_011520942.1:p.Leu1691Pro
XM_017023615.1:c.5147T>C	XP_016879104.1:p.Leu1716Pro
XM_017023616.1:c.5018T>C	XP_016879105.1:p.Leu1673Pro
XM_017023617.1:c.5114T>C	XP_016879106.1:p.Leu1705Pro
XM_017023618.1:c.3860T>C	XP_016879107.1:p.Leu1287Pro
XM_024450413.1:c.4949T>C	XP_024306181.1:p.Leu1650Pro
NM_000548.5:c.5150T>C MANE Select	NP_000539.2:p.Leu1717Pro
NM_001370404.1:c.5018T>C	NP_001357333.1:p.Leu1673Pro
NM_001370405.1:c.5021T>C	NP_001357334.1:p.Leu1674Pro
NM_001077183.3:c.4949T>C	NP_001070651.1:p.Leu1650Pro
NM_001114382.3:c.5081T>C	NP_001107854.1:p.Leu1694Pro
NM_001318827.2:c.4841T>C	NP_001305756.1:p.Leu1614Pro
NM_001318829.2:c.4805T>C	NP_001305758.1:p.Leu1602Pro
NM_001318831.2:c.4418T>C	NP_001305760.1:p.Leu1473Pro
NM_001318832.2:c.4982T>C	NP_001305761.1:p.Leu1661Pro
NM_001363528.2:c.4952T>C	NP_001350457.1:p.Leu1651Pro
NM_021055.3:c.5021T>C	NP_066399.2:p.Leu1674Pro