Canonical Allele Identifier: CA021298

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49910
• ClinVar RCV Id: RCV000043177 ; RCV000478359
• dbSNP Id: rs45517379
• MyVariant Identifiers: chr16:g.2136810A>C (hg19) ; chr16:g.2086809A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086809A>C , CM000678.2:g.2086809A>C	GRCh38
NC_000016.9:g.2136810A>C , CM000678.1:g.2136810A>C	GRCh37
NC_000016.8:g.2076811A>C	NCBI36
NG_005895.1:g.42504A>C , LRG_487:g.42504A>C
NG_008617.1:g.56412T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3276A>C	ENSP00000455997.2:n.*3276A>C
ENST00000642206.2:c.4774A>C	ENSP00000495146.2:p.Asn1592His
ENST00000642365.2:c.4924A>C	ENSP00000495459.2:p.Asn1642His
ENST00000644417.2:c.*5440A>C	ENSP00000493912.2:n.*5440A>C
ENST00000646464.2:c.*7676A>C	ENSP00000496610.2:n.*7676A>C
ENST00000219476.9:c.4927A>C MANE Select	ENSP00000219476.3:p.Asn1643His
ENST00000350773.9:c.4858A>C	ENSP00000344383.4:p.Asn1620His
ENST00000401874.7:c.4726A>C	ENSP00000384468.2:p.Asn1576His
ENST00000568454.6:c.4759A>C	ENSP00000454487.1:p.Asn1587His
ENST00000569110.2:c.1150A>C
ENST00000569930.2:n.2809A>C
ENST00000642365.1:c.3581A>C
ENST00000642561.1:c.4798A>C	ENSP00000495099.1:p.Asn1600His
ENST00000642728.1:n.1109A>C
ENST00000642791.1:n.524A>C
ENST00000642797.1:c.4729A>C	ENSP00000493846.1:p.Asn1577His
ENST00000642936.1:c.4795A>C	ENSP00000494514.1:p.Asn1599His
ENST00000643088.1:c.4720A>C	ENSP00000494747.1:p.Asn1574His
ENST00000643177.1:n.941A>C
ENST00000643426.1:n.2575A>C
ENST00000643946.1:c.4852A>C	ENSP00000495927.1:p.Asn1618His
ENST00000644043.1:c.4798A>C	ENSP00000496262.1:p.Asn1600His
ENST00000644278.1:n.409A>C
ENST00000644329.1:c.4726A>C	ENSP00000496611.1:p.Asn1576His
ENST00000644335.1:c.4723A>C	ENSP00000496317.1:p.Asn1575His
ENST00000644399.1:c.4848A>C
ENST00000645024.1:n.3011A>C
ENST00000646388.1:c.4921A>C	ENSP00000495921.1:p.Asn1641His
ENST00000646557.1:n.88A>C
ENST00000646634.1:n.3742A>C
ENST00000646674.1:n.2179A>C
ENST00000647042.1:n.2150A>C
ENST00000647180.1:n.2040A>C
ENST00000219476.7:c.4927A>C	ENSP00000219476.3:p.Asn1643His
ENST00000350773.8:c.4858A>C	ENSP00000344383.4:p.Asn1620His
ENST00000382538.10:c.4582A>C	ENSP00000371978.6:p.Asn1528His
ENST00000401874.6:c.4726A>C	ENSP00000384468.2:p.Asn1576His
ENST00000439117.6:c.*4094A>C	ENSP00000406980.2:n.*4094A>C
ENST00000439673.6:c.4618A>C	ENSP00000399232.2:p.Asn1540His
ENST00000497886.5:n.2650A>C
ENST00000568454.5:c.4759A>C	ENSP00000454487.1:p.Asn1587His
ENST00000569110.1:c.1109A>C
ENST00000569930.1:n.2042A>C
NM_000548.3:c.4927A>C , LRG_487t1:c.4927A>C	NP_000539.2:p.Asn1643His
NM_001077183.1:c.4726A>C	NP_001070651.1:p.Asn1576His
NM_001114382.1:c.4858A>C	NP_001107854.1:p.Asn1620His
XM_005255529.3:c.4798A>C	XP_005255586.2:p.Asn1600His
XM_005255531.3:c.4729A>C	XP_005255588.2:p.Asn1577His
XM_011522636.1:c.4981A>C	XP_011520938.1:p.Asn1661His
XM_011522637.1:c.4978A>C	XP_011520939.1:p.Asn1660His
XM_011522638.1:c.4870A>C	XP_011520940.1:p.Asn1624His
XM_011522639.1:c.4852A>C	XP_011520941.1:p.Asn1618His
XM_011522640.1:c.4849A>C	XP_011520942.1:p.Asn1617His
XM_011522641.1:c.4618A>C	XP_011520943.1:p.Asn1540His
NM_000548.4:c.4927A>C	NP_000539.2:p.Asn1643His
NM_001077183.2:c.4726A>C	NP_001070651.1:p.Asn1576His
NM_001114382.2:c.4858A>C	NP_001107854.1:p.Asn1620His
NM_001318827.1:c.4618A>C	NP_001305756.1:p.Asn1540His
NM_001318829.1:c.4582A>C	NP_001305758.1:p.Asn1528His
NM_001318831.1:c.4195A>C	NP_001305760.1:p.Asn1399His
NM_001318832.1:c.4759A>C	NP_001305761.1:p.Asn1587His
NM_001363528.1:c.4729A>C	NP_001350457.1:p.Asn1577His
NM_021055.2:c.4798A>C	NP_066399.2:p.Asn1600His
XM_005255531.4:c.4729A>C	XP_005255588.2:p.Asn1577His
XM_011522636.2:c.4981A>C	XP_011520938.1:p.Asn1661His
XM_011522637.2:c.4978A>C	XP_011520939.1:p.Asn1660His
XM_011522638.2:c.5143A>C	XP_011520940.2:p.Asn1715His
XM_011522639.2:c.4852A>C	XP_011520941.1:p.Asn1618His
XM_011522640.2:c.4849A>C	XP_011520942.1:p.Asn1617His
XM_017023615.1:c.4924A>C	XP_016879104.1:p.Asn1642His
XM_017023616.1:c.4795A>C	XP_016879105.1:p.Asn1599His
XM_017023617.1:c.4891A>C	XP_016879106.1:p.Asn1631His
XM_017023618.1:c.3637A>C	XP_016879107.1:p.Asn1213His
XM_024450413.1:c.4726A>C	XP_024306181.1:p.Asn1576His
NM_000548.5:c.4927A>C MANE Select	NP_000539.2:p.Asn1643His
NM_001370404.1:c.4795A>C	NP_001357333.1:p.Asn1599His
NM_001370405.1:c.4798A>C	NP_001357334.1:p.Asn1600His
NM_001077183.3:c.4726A>C	NP_001070651.1:p.Asn1576His
NM_001114382.3:c.4858A>C	NP_001107854.1:p.Asn1620His
NM_001318827.2:c.4618A>C	NP_001305756.1:p.Asn1540His
NM_001318829.2:c.4582A>C	NP_001305758.1:p.Asn1528His
NM_001318831.2:c.4195A>C	NP_001305760.1:p.Asn1399His
NM_001318832.2:c.4759A>C	NP_001305761.1:p.Asn1587His
NM_001363528.2:c.4729A>C	NP_001350457.1:p.Asn1577His
NM_021055.3:c.4798A>C	NP_066399.2:p.Asn1600His