Canonical Allele Identifier: CA493043819

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1079904
• ClinVar RCV Id: RCV001395353
• dbSNP Id: rs2151642575
• gnomAD v4: 16-2088580-C-T
• MyVariant Identifiers: chr16:g.2138581C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088580C>T , CM000678.2:g.2088580C>T	GRCh38
NC_000016.9:g.2138581C>T , CM000678.1:g.2138581C>T	GRCh37
NC_000016.8:g.2078582C>T	NCBI36
NG_005895.1:g.44275C>T , LRG_487:g.44275C>T
NG_008617.1:g.54641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3743C>T	ENSP00000455997.2:n.*3743C>T
ENST00000642206.2:c.5241C>T	ENSP00000495146.2:p.Ser1747=
ENST00000642365.2:c.5391C>T	ENSP00000495459.2:p.Ser1797=
ENST00000644417.2:c.*5907C>T	ENSP00000493912.2:n.*5907C>T
ENST00000646464.2:c.*8143C>T	ENSP00000496610.2:n.*8143C>T
ENST00000219476.9:c.5394C>T MANE Select	ENSP00000219476.3:p.Ser1798=
ENST00000350773.9:c.5325C>T	ENSP00000344383.4:p.Ser1775=
ENST00000401874.7:c.5193C>T	ENSP00000384468.2:p.Ser1731=
ENST00000568454.6:c.5226C>T	ENSP00000454487.1:p.Ser1742=
ENST00000569110.2:c.1617C>T
ENST00000569930.2:n.3276C>T
ENST00000642365.1:c.4048C>T
ENST00000642561.1:c.5253C>T	ENSP00000495099.1:p.Ser1751=
ENST00000642791.1:n.991C>T
ENST00000642797.1:c.5196C>T	ENSP00000493846.1:p.Ser1732=
ENST00000642936.1:c.5262C>T	ENSP00000494514.1:p.Ser1754=
ENST00000643088.1:c.5187C>T	ENSP00000494747.1:p.Ser1729=
ENST00000643426.1:n.3042C>T
ENST00000643946.1:c.5319C>T	ENSP00000495927.1:p.Ser1773=
ENST00000644043.1:c.5265C>T	ENSP00000496262.1:p.Ser1755=
ENST00000644329.1:c.5280C>T	ENSP00000496611.1:p.Ser1760=
ENST00000644335.1:c.5190C>T	ENSP00000496317.1:p.Ser1730=
ENST00000644399.1:c.5315C>T
ENST00000646388.1:c.5388C>T	ENSP00000495921.1:p.Ser1796=
ENST00000646634.1:n.4209C>T
ENST00000646674.1:n.2646C>T
ENST00000647042.1:n.2617C>T
ENST00000647180.1:n.2507C>T
ENST00000219476.7:c.5394C>T	ENSP00000219476.3:p.Ser1798=
ENST00000350773.8:c.5325C>T	ENSP00000344383.4:p.Ser1775=
ENST00000382538.10:c.5049C>T	ENSP00000371978.6:p.Ser1683=
ENST00000401874.6:c.5193C>T	ENSP00000384468.2:p.Ser1731=
ENST00000439117.6:c.*4561C>T	ENSP00000406980.2:n.*4561C>T
ENST00000439673.6:c.5085C>T	ENSP00000399232.2:p.Ser1695=
ENST00000497886.5:n.3117C>T
ENST00000568454.5:c.5226C>T	ENSP00000454487.1:p.Ser1742=
ENST00000569110.1:c.1576C>T
ENST00000569930.1:n.2509C>T
NM_000548.3:c.5394C>T , LRG_487t1:c.5394C>T	NP_000539.2:p.Ser1798=
NM_001077183.1:c.5193C>T	NP_001070651.1:p.Ser1731=
NM_001114382.1:c.5325C>T	NP_001107854.1:p.Ser1775=
XM_005255529.3:c.5265C>T	XP_005255586.2:p.Ser1755=
XM_005255531.3:c.5196C>T	XP_005255588.2:p.Ser1732=
XM_011522636.1:c.5448C>T	XP_011520938.1:p.Ser1816=
XM_011522637.1:c.5445C>T	XP_011520939.1:p.Ser1815=
XM_011522638.1:c.5337C>T	XP_011520940.1:p.Ser1779=
XM_011522639.1:c.5319C>T	XP_011520941.1:p.Ser1773=
XM_011522640.1:c.5316C>T	XP_011520942.1:p.Ser1772=
XM_011522641.1:c.5085C>T	XP_011520943.1:p.Ser1695=
NM_000548.4:c.5394C>T	NP_000539.2:p.Ser1798=
NM_001077183.2:c.5193C>T	NP_001070651.1:p.Ser1731=
NM_001114382.2:c.5325C>T	NP_001107854.1:p.Ser1775=
NM_001318827.1:c.5085C>T	NP_001305756.1:p.Ser1695=
NM_001318829.1:c.5049C>T	NP_001305758.1:p.Ser1683=
NM_001318831.1:c.4662C>T	NP_001305760.1:p.Ser1554=
NM_001318832.1:c.5226C>T	NP_001305761.1:p.Ser1742=
NM_001363528.1:c.5196C>T	NP_001350457.1:p.Ser1732=
NM_021055.2:c.5265C>T	NP_066399.2:p.Ser1755=
XM_005255531.4:c.5196C>T	XP_005255588.2:p.Ser1732=
XM_011522636.2:c.5448C>T	XP_011520938.1:p.Ser1816=
XM_011522637.2:c.5445C>T	XP_011520939.1:p.Ser1815=
XM_011522638.2:c.5610C>T	XP_011520940.2:p.Ser1870=
XM_011522639.2:c.5319C>T	XP_011520941.1:p.Ser1773=
XM_011522640.2:c.5316C>T	XP_011520942.1:p.Ser1772=
XM_017023615.1:c.5391C>T	XP_016879104.1:p.Ser1797=
XM_017023616.1:c.5262C>T	XP_016879105.1:p.Ser1754=
XM_017023617.1:c.5358C>T	XP_016879106.1:p.Ser1786=
XM_017023618.1:c.4104C>T	XP_016879107.1:p.Ser1368=
XM_024450413.1:c.5280C>T	XP_024306181.1:p.Ser1760=
NM_000548.5:c.5394C>T MANE Select	NP_000539.2:p.Ser1798=
NM_001370404.1:c.5262C>T	NP_001357333.1:p.Ser1754=
NM_001370405.1:c.5253C>T	NP_001357334.1:p.Ser1751=
NM_001077183.3:c.5193C>T	NP_001070651.1:p.Ser1731=
NM_001114382.3:c.5325C>T	NP_001107854.1:p.Ser1775=
NM_001318827.2:c.5085C>T	NP_001305756.1:p.Ser1695=
NM_001318829.2:c.5049C>T	NP_001305758.1:p.Ser1683=
NM_001318831.2:c.4662C>T	NP_001305760.1:p.Ser1554=
NM_001318832.2:c.5226C>T	NP_001305761.1:p.Ser1742=
NM_001363528.2:c.5196C>T	NP_001350457.1:p.Ser1732=
NM_021055.3:c.5265C>T	NP_066399.2:p.Ser1755=