Canonical Allele Identifier: CA394303025

Gene: TSC2

Linked Data

• ClinVar Variation Id: 468100
• ClinVar RCV Id: RCV000537005
• dbSNP Id: rs1555514956
• MyVariant Identifiers: chr16:g.2135014T>C (hg19) ; chr16:g.2085013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085013T>C , CM000678.2:g.2085013T>C	GRCh38
NC_000016.9:g.2135014T>C , CM000678.1:g.2135014T>C	GRCh37
NC_000016.8:g.2075015T>C	NCBI36
NG_005895.1:g.40708T>C , LRG_487:g.40708T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2905T>C	ENSP00000455997.2:n.*2905T>C
ENST00000642206.2:c.4403T>C	ENSP00000495146.2:p.Leu1468Pro
ENST00000642365.2:c.4553T>C	ENSP00000495459.2:p.Leu1518Pro
ENST00000644417.2:c.*4936T>C	ENSP00000493912.2:n.*4936T>C
ENST00000646464.2:c.*7305T>C	ENSP00000496610.2:n.*7305T>C
ENST00000219476.9:c.4556T>C MANE Select	ENSP00000219476.3:p.Leu1519Pro
ENST00000350773.9:c.4487T>C	ENSP00000344383.4:p.Leu1496Pro
ENST00000401874.7:c.4355T>C	ENSP00000384468.2:p.Leu1452Pro
ENST00000568454.6:c.4388T>C	ENSP00000454487.1:p.Leu1463Pro
ENST00000569110.2:c.779T>C
ENST00000569930.2:n.2438T>C
ENST00000642365.1:c.3210T>C
ENST00000642561.1:c.4427T>C	ENSP00000495099.1:p.Leu1476Pro
ENST00000642728.1:n.738T>C
ENST00000642797.1:c.4358T>C	ENSP00000493846.1:p.Leu1453Pro
ENST00000642936.1:c.4424T>C	ENSP00000494514.1:p.Leu1475Pro
ENST00000643088.1:c.4355T>C	ENSP00000494747.1:p.Leu1452Pro
ENST00000643177.1:n.570T>C
ENST00000643426.1:n.2204T>C
ENST00000643946.1:c.4487T>C	ENSP00000495927.1:p.Leu1496Pro
ENST00000644043.1:c.4427T>C	ENSP00000496262.1:p.Leu1476Pro
ENST00000644329.1:c.4355T>C	ENSP00000496611.1:p.Leu1452Pro
ENST00000644335.1:c.4358T>C	ENSP00000496317.1:p.Leu1453Pro
ENST00000644399.1:c.4477T>C
ENST00000645024.1:n.2640T>C
ENST00000646388.1:c.4556T>C	ENSP00000495921.1:p.Leu1519Pro
ENST00000646634.1:n.3371T>C
ENST00000646674.1:n.1808T>C
ENST00000647042.1:n.1779T>C
ENST00000647180.1:n.1669T>C
ENST00000219476.7:c.4556T>C	ENSP00000219476.3:p.Leu1519Pro
ENST00000350773.8:c.4487T>C	ENSP00000344383.4:p.Leu1496Pro
ENST00000382538.10:c.4211T>C	ENSP00000371978.6:p.Leu1404Pro
ENST00000401874.6:c.4355T>C	ENSP00000384468.2:p.Leu1452Pro
ENST00000439117.6:c.*3723T>C	ENSP00000406980.2:n.*3723T>C
ENST00000439673.6:c.4247T>C	ENSP00000399232.2:p.Leu1416Pro
ENST00000497886.5:n.2314T>C
ENST00000568454.5:c.4388T>C	ENSP00000454487.1:p.Leu1463Pro
ENST00000569110.1:c.738T>C
ENST00000569930.1:n.1671T>C
NM_000548.3:c.4556T>C , LRG_487t1:c.4556T>C	NP_000539.2:p.Leu1519Pro
NM_001077183.1:c.4355T>C	NP_001070651.1:p.Leu1452Pro
NM_001114382.1:c.4487T>C	NP_001107854.1:p.Leu1496Pro
XM_005255529.3:c.4427T>C	XP_005255586.2:p.Leu1476Pro
XM_005255531.3:c.4358T>C	XP_005255588.2:p.Leu1453Pro
XM_011522636.1:c.4610T>C	XP_011520938.1:p.Leu1537Pro
XM_011522637.1:c.4607T>C	XP_011520939.1:p.Leu1536Pro
XM_011522638.1:c.4499T>C	XP_011520940.1:p.Leu1500Pro
XM_011522639.1:c.4481T>C	XP_011520941.1:p.Leu1494Pro
XM_011522640.1:c.4478T>C	XP_011520942.1:p.Leu1493Pro
XM_011522641.1:c.4247T>C	XP_011520943.1:p.Leu1416Pro
NM_000548.4:c.4556T>C	NP_000539.2:p.Leu1519Pro
NM_001077183.2:c.4355T>C	NP_001070651.1:p.Leu1452Pro
NM_001114382.2:c.4487T>C	NP_001107854.1:p.Leu1496Pro
NM_001318827.1:c.4247T>C	NP_001305756.1:p.Leu1416Pro
NM_001318829.1:c.4211T>C	NP_001305758.1:p.Leu1404Pro
NM_001318831.1:c.3824T>C	NP_001305760.1:p.Leu1275Pro
NM_001318832.1:c.4388T>C	NP_001305761.1:p.Leu1463Pro
NM_001363528.1:c.4358T>C	NP_001350457.1:p.Leu1453Pro
NM_021055.2:c.4427T>C	NP_066399.2:p.Leu1476Pro
XM_005255531.4:c.4358T>C	XP_005255588.2:p.Leu1453Pro
XM_011522636.2:c.4610T>C	XP_011520938.1:p.Leu1537Pro
XM_011522637.2:c.4607T>C	XP_011520939.1:p.Leu1536Pro
XM_011522638.2:c.4772T>C	XP_011520940.2:p.Leu1591Pro
XM_011522639.2:c.4481T>C	XP_011520941.1:p.Leu1494Pro
XM_011522640.2:c.4478T>C	XP_011520942.1:p.Leu1493Pro
XM_017023615.1:c.4553T>C	XP_016879104.1:p.Leu1518Pro
XM_017023616.1:c.4424T>C	XP_016879105.1:p.Leu1475Pro
XM_017023617.1:c.4520T>C	XP_016879106.1:p.Leu1507Pro
XM_017023618.1:c.3266T>C	XP_016879107.1:p.Leu1089Pro
XM_024450413.1:c.4355T>C	XP_024306181.1:p.Leu1452Pro
NM_000548.5:c.4556T>C MANE Select	NP_000539.2:p.Leu1519Pro
NM_001370404.1:c.4424T>C	NP_001357333.1:p.Leu1475Pro
NM_001370405.1:c.4427T>C	NP_001357334.1:p.Leu1476Pro
NM_001077183.3:c.4355T>C	NP_001070651.1:p.Leu1452Pro
NM_001114382.3:c.4487T>C	NP_001107854.1:p.Leu1496Pro
NM_001318827.2:c.4247T>C	NP_001305756.1:p.Leu1416Pro
NM_001318829.2:c.4211T>C	NP_001305758.1:p.Leu1404Pro
NM_001318831.2:c.3824T>C	NP_001305760.1:p.Leu1275Pro
NM_001318832.2:c.4388T>C	NP_001305761.1:p.Leu1463Pro
NM_001363528.2:c.4358T>C	NP_001350457.1:p.Leu1453Pro
NM_021055.3:c.4427T>C	NP_066399.2:p.Leu1476Pro