Canonical Allele Identifier: CA394304468

Gene: TSC2

Linked Data

• dbSNP Id: rs1567528487
• MyVariant Identifiers: chr16:g.2135250C>G (hg19) ; chr16:g.2085249C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2938C>G	ENSP00000455997.2:n.*2938C>G
ENST00000642206.2:c.4436C>G	ENSP00000495146.2:p.Ser1479Trp
ENST00000642365.2:c.4586C>G	ENSP00000495459.2:p.Ser1529Trp
ENST00000644417.2:c.*4969C>G	ENSP00000493912.2:n.*4969C>G
ENST00000646464.2:c.*7338C>G	ENSP00000496610.2:n.*7338C>G
ENST00000219476.9:c.4589C>G MANE Select	ENSP00000219476.3:p.Ser1530Trp
ENST00000350773.9:c.4520C>G	ENSP00000344383.4:p.Ser1507Trp
ENST00000401874.7:c.4388C>G	ENSP00000384468.2:p.Ser1463Trp
ENST00000568454.6:c.4421C>G	ENSP00000454487.1:p.Ser1474Trp
ENST00000569110.2:c.812C>G
ENST00000569930.2:n.2471C>G
ENST00000642365.1:c.3243C>G
ENST00000642561.1:c.4460C>G	ENSP00000495099.1:p.Ser1487Trp
ENST00000642728.1:n.771C>G
ENST00000642791.1:n.186C>G
ENST00000642797.1:c.4391C>G	ENSP00000493846.1:p.Ser1464Trp
ENST00000642936.1:c.4457C>G	ENSP00000494514.1:p.Ser1486Trp
ENST00000643088.1:c.4382C>G	ENSP00000494747.1:p.Ser1461Trp
ENST00000643177.1:n.603C>G
ENST00000643426.1:n.2237C>G
ENST00000643946.1:c.4514C>G	ENSP00000495927.1:p.Ser1505Trp
ENST00000644043.1:c.4460C>G	ENSP00000496262.1:p.Ser1487Trp
ENST00000644278.1:n.71C>G
ENST00000644329.1:c.4388C>G	ENSP00000496611.1:p.Ser1463Trp
ENST00000644335.1:c.4385C>G	ENSP00000496317.1:p.Ser1462Trp
ENST00000644399.1:c.4510C>G
ENST00000645024.1:n.2673C>G
ENST00000646388.1:c.4583C>G	ENSP00000495921.1:p.Ser1528Trp
ENST00000646634.1:n.3404C>G
ENST00000646674.1:n.1841C>G
ENST00000647042.1:n.1812C>G
ENST00000647180.1:n.1702C>G
ENST00000219476.7:c.4589C>G	ENSP00000219476.3:p.Ser1530Trp
ENST00000350773.8:c.4520C>G	ENSP00000344383.4:p.Ser1507Trp
ENST00000382538.10:c.4244C>G	ENSP00000371978.6:p.Ser1415Trp
ENST00000401874.6:c.4388C>G	ENSP00000384468.2:p.Ser1463Trp
ENST00000439117.6:c.*3756C>G	ENSP00000406980.2:n.*3756C>G
ENST00000439673.6:c.4280C>G	ENSP00000399232.2:p.Ser1427Trp
ENST00000497886.5:n.2347C>G
ENST00000568454.5:c.4421C>G	ENSP00000454487.1:p.Ser1474Trp
ENST00000569110.1:c.771C>G
ENST00000569930.1:n.1704C>G
NM_000548.3:c.4589C>G , LRG_487t1:c.4589C>G	NP_000539.2:p.Ser1530Trp
NM_001077183.1:c.4388C>G	NP_001070651.1:p.Ser1463Trp
NM_001114382.1:c.4520C>G	NP_001107854.1:p.Ser1507Trp
XM_005255529.3:c.4460C>G	XP_005255586.2:p.Ser1487Trp
XM_005255531.3:c.4391C>G	XP_005255588.2:p.Ser1464Trp
XM_011522636.1:c.4643C>G	XP_011520938.1:p.Ser1548Trp
XM_011522637.1:c.4640C>G	XP_011520939.1:p.Ser1547Trp
XM_011522638.1:c.4532C>G	XP_011520940.1:p.Ser1511Trp
XM_011522639.1:c.4514C>G	XP_011520941.1:p.Ser1505Trp
XM_011522640.1:c.4511C>G	XP_011520942.1:p.Ser1504Trp
XM_011522641.1:c.4280C>G	XP_011520943.1:p.Ser1427Trp
NM_000548.4:c.4589C>G	NP_000539.2:p.Ser1530Trp
NM_001077183.2:c.4388C>G	NP_001070651.1:p.Ser1463Trp
NM_001114382.2:c.4520C>G	NP_001107854.1:p.Ser1507Trp
NM_001318827.1:c.4280C>G	NP_001305756.1:p.Ser1427Trp
NM_001318829.1:c.4244C>G	NP_001305758.1:p.Ser1415Trp
NM_001318831.1:c.3857C>G	NP_001305760.1:p.Ser1286Trp
NM_001318832.1:c.4421C>G	NP_001305761.1:p.Ser1474Trp
NM_001363528.1:c.4391C>G	NP_001350457.1:p.Ser1464Trp
NM_021055.2:c.4460C>G	NP_066399.2:p.Ser1487Trp
XM_005255531.4:c.4391C>G	XP_005255588.2:p.Ser1464Trp
XM_011522636.2:c.4643C>G	XP_011520938.1:p.Ser1548Trp
XM_011522637.2:c.4640C>G	XP_011520939.1:p.Ser1547Trp
XM_011522638.2:c.4805C>G	XP_011520940.2:p.Ser1602Trp
XM_011522639.2:c.4514C>G	XP_011520941.1:p.Ser1505Trp
XM_011522640.2:c.4511C>G	XP_011520942.1:p.Ser1504Trp
XM_017023615.1:c.4586C>G	XP_016879104.1:p.Ser1529Trp
XM_017023616.1:c.4457C>G	XP_016879105.1:p.Ser1486Trp
XM_017023617.1:c.4553C>G	XP_016879106.1:p.Ser1518Trp
XM_017023618.1:c.3299C>G	XP_016879107.1:p.Ser1100Trp
XM_024450413.1:c.4388C>G	XP_024306181.1:p.Ser1463Trp
NM_000548.5:c.4589C>G MANE Select	NP_000539.2:p.Ser1530Trp
NM_001370404.1:c.4457C>G	NP_001357333.1:p.Ser1486Trp
NM_001370405.1:c.4460C>G	NP_001357334.1:p.Ser1487Trp
NM_001077183.3:c.4388C>G	NP_001070651.1:p.Ser1463Trp
NM_001114382.3:c.4520C>G	NP_001107854.1:p.Ser1507Trp
NM_001318827.2:c.4280C>G	NP_001305756.1:p.Ser1427Trp
NM_001318829.2:c.4244C>G	NP_001305758.1:p.Ser1415Trp
NM_001318831.2:c.3857C>G	NP_001305760.1:p.Ser1286Trp
NM_001318832.2:c.4421C>G	NP_001305761.1:p.Ser1474Trp
NM_001363528.2:c.4391C>G	NP_001350457.1:p.Ser1464Trp
NM_021055.3:c.4460C>G	NP_066399.2:p.Ser1487Trp