Canonical Allele Identifier: CA394304471

Gene: TSC2

Linked Data

• ClinVar Variation Id: 573348
• ClinVar RCV Id: RCV000694999 ; RCV001022741 ; RCV003999632
• dbSNP Id: rs1567528487
• gnomAD v4: 16-2085249-C-T
• MyVariant Identifiers: chr16:g.2135250C>T (hg19) ; chr16:g.2085249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085249C>T , CM000678.2:g.2085249C>T	GRCh38
NC_000016.9:g.2135250C>T , CM000678.1:g.2135250C>T	GRCh37
NC_000016.8:g.2075251C>T	NCBI36
NG_005895.1:g.40944C>T , LRG_487:g.40944C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2938C>T	ENSP00000455997.2:n.*2938C>T
ENST00000642206.2:c.4436C>T	ENSP00000495146.2:p.Ser1479Leu
ENST00000642365.2:c.4586C>T	ENSP00000495459.2:p.Ser1529Leu
ENST00000644417.2:c.*4969C>T	ENSP00000493912.2:n.*4969C>T
ENST00000646464.2:c.*7338C>T	ENSP00000496610.2:n.*7338C>T
ENST00000219476.9:c.4589C>T MANE Select	ENSP00000219476.3:p.Ser1530Leu
ENST00000350773.9:c.4520C>T	ENSP00000344383.4:p.Ser1507Leu
ENST00000401874.7:c.4388C>T	ENSP00000384468.2:p.Ser1463Leu
ENST00000568454.6:c.4421C>T	ENSP00000454487.1:p.Ser1474Leu
ENST00000569110.2:c.812C>T
ENST00000569930.2:n.2471C>T
ENST00000642365.1:c.3243C>T
ENST00000642561.1:c.4460C>T	ENSP00000495099.1:p.Ser1487Leu
ENST00000642728.1:n.771C>T
ENST00000642791.1:n.186C>T
ENST00000642797.1:c.4391C>T	ENSP00000493846.1:p.Ser1464Leu
ENST00000642936.1:c.4457C>T	ENSP00000494514.1:p.Ser1486Leu
ENST00000643088.1:c.4382C>T	ENSP00000494747.1:p.Ser1461Leu
ENST00000643177.1:n.603C>T
ENST00000643426.1:n.2237C>T
ENST00000643946.1:c.4514C>T	ENSP00000495927.1:p.Ser1505Leu
ENST00000644043.1:c.4460C>T	ENSP00000496262.1:p.Ser1487Leu
ENST00000644278.1:n.71C>T
ENST00000644329.1:c.4388C>T	ENSP00000496611.1:p.Ser1463Leu
ENST00000644335.1:c.4385C>T	ENSP00000496317.1:p.Ser1462Leu
ENST00000644399.1:c.4510C>T
ENST00000645024.1:n.2673C>T
ENST00000646388.1:c.4583C>T	ENSP00000495921.1:p.Ser1528Leu
ENST00000646634.1:n.3404C>T
ENST00000646674.1:n.1841C>T
ENST00000647042.1:n.1812C>T
ENST00000647180.1:n.1702C>T
ENST00000219476.7:c.4589C>T	ENSP00000219476.3:p.Ser1530Leu
ENST00000350773.8:c.4520C>T	ENSP00000344383.4:p.Ser1507Leu
ENST00000382538.10:c.4244C>T	ENSP00000371978.6:p.Ser1415Leu
ENST00000401874.6:c.4388C>T	ENSP00000384468.2:p.Ser1463Leu
ENST00000439117.6:c.*3756C>T	ENSP00000406980.2:n.*3756C>T
ENST00000439673.6:c.4280C>T	ENSP00000399232.2:p.Ser1427Leu
ENST00000497886.5:n.2347C>T
ENST00000568454.5:c.4421C>T	ENSP00000454487.1:p.Ser1474Leu
ENST00000569110.1:c.771C>T
ENST00000569930.1:n.1704C>T
NM_000548.3:c.4589C>T , LRG_487t1:c.4589C>T	NP_000539.2:p.Ser1530Leu
NM_001077183.1:c.4388C>T	NP_001070651.1:p.Ser1463Leu
NM_001114382.1:c.4520C>T	NP_001107854.1:p.Ser1507Leu
XM_005255529.3:c.4460C>T	XP_005255586.2:p.Ser1487Leu
XM_005255531.3:c.4391C>T	XP_005255588.2:p.Ser1464Leu
XM_011522636.1:c.4643C>T	XP_011520938.1:p.Ser1548Leu
XM_011522637.1:c.4640C>T	XP_011520939.1:p.Ser1547Leu
XM_011522638.1:c.4532C>T	XP_011520940.1:p.Ser1511Leu
XM_011522639.1:c.4514C>T	XP_011520941.1:p.Ser1505Leu
XM_011522640.1:c.4511C>T	XP_011520942.1:p.Ser1504Leu
XM_011522641.1:c.4280C>T	XP_011520943.1:p.Ser1427Leu
NM_000548.4:c.4589C>T	NP_000539.2:p.Ser1530Leu
NM_001077183.2:c.4388C>T	NP_001070651.1:p.Ser1463Leu
NM_001114382.2:c.4520C>T	NP_001107854.1:p.Ser1507Leu
NM_001318827.1:c.4280C>T	NP_001305756.1:p.Ser1427Leu
NM_001318829.1:c.4244C>T	NP_001305758.1:p.Ser1415Leu
NM_001318831.1:c.3857C>T	NP_001305760.1:p.Ser1286Leu
NM_001318832.1:c.4421C>T	NP_001305761.1:p.Ser1474Leu
NM_001363528.1:c.4391C>T	NP_001350457.1:p.Ser1464Leu
NM_021055.2:c.4460C>T	NP_066399.2:p.Ser1487Leu
XM_005255531.4:c.4391C>T	XP_005255588.2:p.Ser1464Leu
XM_011522636.2:c.4643C>T	XP_011520938.1:p.Ser1548Leu
XM_011522637.2:c.4640C>T	XP_011520939.1:p.Ser1547Leu
XM_011522638.2:c.4805C>T	XP_011520940.2:p.Ser1602Leu
XM_011522639.2:c.4514C>T	XP_011520941.1:p.Ser1505Leu
XM_011522640.2:c.4511C>T	XP_011520942.1:p.Ser1504Leu
XM_017023615.1:c.4586C>T	XP_016879104.1:p.Ser1529Leu
XM_017023616.1:c.4457C>T	XP_016879105.1:p.Ser1486Leu
XM_017023617.1:c.4553C>T	XP_016879106.1:p.Ser1518Leu
XM_017023618.1:c.3299C>T	XP_016879107.1:p.Ser1100Leu
XM_024450413.1:c.4388C>T	XP_024306181.1:p.Ser1463Leu
NM_000548.5:c.4589C>T MANE Select	NP_000539.2:p.Ser1530Leu
NM_001370404.1:c.4457C>T	NP_001357333.1:p.Ser1486Leu
NM_001370405.1:c.4460C>T	NP_001357334.1:p.Ser1487Leu
NM_001077183.3:c.4388C>T	NP_001070651.1:p.Ser1463Leu
NM_001114382.3:c.4520C>T	NP_001107854.1:p.Ser1507Leu
NM_001318827.2:c.4280C>T	NP_001305756.1:p.Ser1427Leu
NM_001318829.2:c.4244C>T	NP_001305758.1:p.Ser1415Leu
NM_001318831.2:c.3857C>T	NP_001305760.1:p.Ser1286Leu
NM_001318832.2:c.4421C>T	NP_001305761.1:p.Ser1474Leu
NM_001363528.2:c.4391C>T	NP_001350457.1:p.Ser1464Leu
NM_021055.3:c.4460C>T	NP_066399.2:p.Ser1487Leu