Canonical Allele Identifier: CA021276

Gene: TSC2

Linked Data

• ClinVar Variation Id: 197025
• ClinVar RCV Id: RCV000594599 ; RCV001852204
• dbSNP Id: rs794727602
• MyVariant Identifiers: chr16:g.2136802A>C (hg19) ; chr16:g.2086801A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086801A>C , CM000678.2:g.2086801A>C	GRCh38
NC_000016.9:g.2136802A>C , CM000678.1:g.2136802A>C	GRCh37
NC_000016.8:g.2076803A>C	NCBI36
NG_005895.1:g.42496A>C , LRG_487:g.42496A>C
NG_008617.1:g.56420T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3268A>C	ENSP00000455997.2:n.*3268A>C
ENST00000642206.2:c.4766A>C	ENSP00000495146.2:p.His1589Pro
ENST00000642365.2:c.4916A>C	ENSP00000495459.2:p.His1639Pro
ENST00000644417.2:c.*5432A>C	ENSP00000493912.2:n.*5432A>C
ENST00000646464.2:c.*7668A>C	ENSP00000496610.2:n.*7668A>C
ENST00000219476.9:c.4919A>C MANE Select	ENSP00000219476.3:p.His1640Pro
ENST00000350773.9:c.4850A>C	ENSP00000344383.4:p.His1617Pro
ENST00000401874.7:c.4718A>C	ENSP00000384468.2:p.His1573Pro
ENST00000568454.6:c.4751A>C	ENSP00000454487.1:p.His1584Pro
ENST00000569110.2:c.1142A>C
ENST00000569930.2:n.2801A>C
ENST00000642365.1:c.3573A>C
ENST00000642561.1:c.4790A>C	ENSP00000495099.1:p.His1597Pro
ENST00000642728.1:n.1101A>C
ENST00000642791.1:n.516A>C
ENST00000642797.1:c.4721A>C	ENSP00000493846.1:p.His1574Pro
ENST00000642936.1:c.4787A>C	ENSP00000494514.1:p.His1596Pro
ENST00000643088.1:c.4712A>C	ENSP00000494747.1:p.His1571Pro
ENST00000643177.1:n.933A>C
ENST00000643426.1:n.2567A>C
ENST00000643946.1:c.4844A>C	ENSP00000495927.1:p.His1615Pro
ENST00000644043.1:c.4790A>C	ENSP00000496262.1:p.His1597Pro
ENST00000644278.1:n.401A>C
ENST00000644329.1:c.4718A>C	ENSP00000496611.1:p.His1573Pro
ENST00000644335.1:c.4715A>C	ENSP00000496317.1:p.His1572Pro
ENST00000644399.1:c.4840A>C
ENST00000645024.1:n.3003A>C
ENST00000646388.1:c.4913A>C	ENSP00000495921.1:p.His1638Pro
ENST00000646557.1:n.80A>C
ENST00000646634.1:n.3734A>C
ENST00000646674.1:n.2171A>C
ENST00000647042.1:n.2142A>C
ENST00000647180.1:n.2032A>C
ENST00000219476.7:c.4919A>C	ENSP00000219476.3:p.His1640Pro
ENST00000350773.8:c.4850A>C	ENSP00000344383.4:p.His1617Pro
ENST00000382538.10:c.4574A>C	ENSP00000371978.6:p.His1525Pro
ENST00000401874.6:c.4718A>C	ENSP00000384468.2:p.His1573Pro
ENST00000439117.6:c.*4086A>C	ENSP00000406980.2:n.*4086A>C
ENST00000439673.6:c.4610A>C	ENSP00000399232.2:p.His1537Pro
ENST00000497886.5:n.2642A>C
ENST00000568454.5:c.4751A>C	ENSP00000454487.1:p.His1584Pro
ENST00000569110.1:c.1101A>C
ENST00000569930.1:n.2034A>C
NM_000548.3:c.4919A>C , LRG_487t1:c.4919A>C	NP_000539.2:p.His1640Pro
NM_001077183.1:c.4718A>C	NP_001070651.1:p.His1573Pro
NM_001114382.1:c.4850A>C	NP_001107854.1:p.His1617Pro
XM_005255529.3:c.4790A>C	XP_005255586.2:p.His1597Pro
XM_005255531.3:c.4721A>C	XP_005255588.2:p.His1574Pro
XM_011522636.1:c.4973A>C	XP_011520938.1:p.His1658Pro
XM_011522637.1:c.4970A>C	XP_011520939.1:p.His1657Pro
XM_011522638.1:c.4862A>C	XP_011520940.1:p.His1621Pro
XM_011522639.1:c.4844A>C	XP_011520941.1:p.His1615Pro
XM_011522640.1:c.4841A>C	XP_011520942.1:p.His1614Pro
XM_011522641.1:c.4610A>C	XP_011520943.1:p.His1537Pro
NM_000548.4:c.4919A>C	NP_000539.2:p.His1640Pro
NM_001077183.2:c.4718A>C	NP_001070651.1:p.His1573Pro
NM_001114382.2:c.4850A>C	NP_001107854.1:p.His1617Pro
NM_001318827.1:c.4610A>C	NP_001305756.1:p.His1537Pro
NM_001318829.1:c.4574A>C	NP_001305758.1:p.His1525Pro
NM_001318831.1:c.4187A>C	NP_001305760.1:p.His1396Pro
NM_001318832.1:c.4751A>C	NP_001305761.1:p.His1584Pro
NM_001363528.1:c.4721A>C	NP_001350457.1:p.His1574Pro
NM_021055.2:c.4790A>C	NP_066399.2:p.His1597Pro
XM_005255531.4:c.4721A>C	XP_005255588.2:p.His1574Pro
XM_011522636.2:c.4973A>C	XP_011520938.1:p.His1658Pro
XM_011522637.2:c.4970A>C	XP_011520939.1:p.His1657Pro
XM_011522638.2:c.5135A>C	XP_011520940.2:p.His1712Pro
XM_011522639.2:c.4844A>C	XP_011520941.1:p.His1615Pro
XM_011522640.2:c.4841A>C	XP_011520942.1:p.His1614Pro
XM_017023615.1:c.4916A>C	XP_016879104.1:p.His1639Pro
XM_017023616.1:c.4787A>C	XP_016879105.1:p.His1596Pro
XM_017023617.1:c.4883A>C	XP_016879106.1:p.His1628Pro
XM_017023618.1:c.3629A>C	XP_016879107.1:p.His1210Pro
XM_024450413.1:c.4718A>C	XP_024306181.1:p.His1573Pro
NM_000548.5:c.4919A>C MANE Select	NP_000539.2:p.His1640Pro
NM_001370404.1:c.4787A>C	NP_001357333.1:p.His1596Pro
NM_001370405.1:c.4790A>C	NP_001357334.1:p.His1597Pro
NM_001077183.3:c.4718A>C	NP_001070651.1:p.His1573Pro
NM_001114382.3:c.4850A>C	NP_001107854.1:p.His1617Pro
NM_001318827.2:c.4610A>C	NP_001305756.1:p.His1537Pro
NM_001318829.2:c.4574A>C	NP_001305758.1:p.His1525Pro
NM_001318831.2:c.4187A>C	NP_001305760.1:p.His1396Pro
NM_001318832.2:c.4751A>C	NP_001305761.1:p.His1584Pro
NM_001363528.2:c.4721A>C	NP_001350457.1:p.His1574Pro
NM_021055.3:c.4790A>C	NP_066399.2:p.His1597Pro