Canonical Allele Identifier: CA020960

Gene: TSC2

Linked Data

• ClinVar Variation Id: 50095
• ClinVar RCV Id: RCV000043361 ; RCV000820413
• dbSNP Id: rs45517367
• MyVariant Identifiers: chr16:g.2136264T>C (hg19) ; chr16:g.2086263T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086263T>C , CM000678.2:g.2086263T>C	GRCh38
NC_000016.9:g.2136264T>C , CM000678.1:g.2136264T>C	GRCh37
NC_000016.8:g.2076265T>C	NCBI36
NG_005895.1:g.41958T>C , LRG_487:g.41958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3082T>C	ENSP00000455997.2:n.*3082T>C
ENST00000642206.2:c.4580T>C	ENSP00000495146.2:p.Leu1527Pro
ENST00000642365.2:c.4730T>C	ENSP00000495459.2:p.Leu1577Pro
ENST00000644417.2:c.*5246T>C	ENSP00000493912.2:n.*5246T>C
ENST00000646464.2:c.*7482T>C	ENSP00000496610.2:n.*7482T>C
ENST00000219476.9:c.4733T>C MANE Select	ENSP00000219476.3:p.Leu1578Pro
ENST00000350773.9:c.4664T>C	ENSP00000344383.4:p.Leu1555Pro
ENST00000401874.7:c.4532T>C	ENSP00000384468.2:p.Leu1511Pro
ENST00000568454.6:c.4565T>C	ENSP00000454487.1:p.Leu1522Pro
ENST00000569110.2:c.956T>C
ENST00000569930.2:n.2615T>C
ENST00000642365.1:c.3387T>C
ENST00000642561.1:c.4604T>C	ENSP00000495099.1:p.Leu1535Pro
ENST00000642728.1:n.915T>C
ENST00000642791.1:n.330T>C
ENST00000642797.1:c.4535T>C	ENSP00000493846.1:p.Leu1512Pro
ENST00000642936.1:c.4601T>C	ENSP00000494514.1:p.Leu1534Pro
ENST00000643088.1:c.4526T>C	ENSP00000494747.1:p.Leu1509Pro
ENST00000643177.1:n.747T>C
ENST00000643426.1:n.2381T>C
ENST00000643946.1:c.4658T>C	ENSP00000495927.1:p.Leu1553Pro
ENST00000644043.1:c.4604T>C	ENSP00000496262.1:p.Leu1535Pro
ENST00000644278.1:n.215T>C
ENST00000644329.1:c.4532T>C	ENSP00000496611.1:p.Leu1511Pro
ENST00000644335.1:c.4529T>C	ENSP00000496317.1:p.Leu1510Pro
ENST00000644399.1:c.4654T>C
ENST00000645024.1:n.2817T>C
ENST00000646388.1:c.4727T>C	ENSP00000495921.1:p.Leu1576Pro
ENST00000646634.1:n.3548T>C
ENST00000646674.1:n.1985T>C
ENST00000647042.1:n.1956T>C
ENST00000647180.1:n.1846T>C
ENST00000219476.7:c.4733T>C	ENSP00000219476.3:p.Leu1578Pro
ENST00000350773.8:c.4664T>C	ENSP00000344383.4:p.Leu1555Pro
ENST00000382538.10:c.4388T>C	ENSP00000371978.6:p.Leu1463Pro
ENST00000401874.6:c.4532T>C	ENSP00000384468.2:p.Leu1511Pro
ENST00000439117.6:c.*3900T>C	ENSP00000406980.2:n.*3900T>C
ENST00000439673.6:c.4424T>C	ENSP00000399232.2:p.Leu1475Pro
ENST00000497886.5:n.2491T>C
ENST00000568454.5:c.4565T>C	ENSP00000454487.1:p.Leu1522Pro
ENST00000569110.1:c.915T>C
ENST00000569930.1:n.1848T>C
NM_000548.3:c.4733T>C , LRG_487t1:c.4733T>C	NP_000539.2:p.Leu1578Pro
NM_001077183.1:c.4532T>C	NP_001070651.1:p.Leu1511Pro
NM_001114382.1:c.4664T>C	NP_001107854.1:p.Leu1555Pro
XM_005255529.3:c.4604T>C	XP_005255586.2:p.Leu1535Pro
XM_005255531.3:c.4535T>C	XP_005255588.2:p.Leu1512Pro
XM_011522636.1:c.4787T>C	XP_011520938.1:p.Leu1596Pro
XM_011522637.1:c.4784T>C	XP_011520939.1:p.Leu1595Pro
XM_011522638.1:c.4676T>C	XP_011520940.1:p.Leu1559Pro
XM_011522639.1:c.4658T>C	XP_011520941.1:p.Leu1553Pro
XM_011522640.1:c.4655T>C	XP_011520942.1:p.Leu1552Pro
XM_011522641.1:c.4424T>C	XP_011520943.1:p.Leu1475Pro
NM_000548.4:c.4733T>C	NP_000539.2:p.Leu1578Pro
NM_001077183.2:c.4532T>C	NP_001070651.1:p.Leu1511Pro
NM_001114382.2:c.4664T>C	NP_001107854.1:p.Leu1555Pro
NM_001318827.1:c.4424T>C	NP_001305756.1:p.Leu1475Pro
NM_001318829.1:c.4388T>C	NP_001305758.1:p.Leu1463Pro
NM_001318831.1:c.4001T>C	NP_001305760.1:p.Leu1334Pro
NM_001318832.1:c.4565T>C	NP_001305761.1:p.Leu1522Pro
NM_001363528.1:c.4535T>C	NP_001350457.1:p.Leu1512Pro
NM_021055.2:c.4604T>C	NP_066399.2:p.Leu1535Pro
XM_005255531.4:c.4535T>C	XP_005255588.2:p.Leu1512Pro
XM_011522636.2:c.4787T>C	XP_011520938.1:p.Leu1596Pro
XM_011522637.2:c.4784T>C	XP_011520939.1:p.Leu1595Pro
XM_011522638.2:c.4949T>C	XP_011520940.2:p.Leu1650Pro
XM_011522639.2:c.4658T>C	XP_011520941.1:p.Leu1553Pro
XM_011522640.2:c.4655T>C	XP_011520942.1:p.Leu1552Pro
XM_017023615.1:c.4730T>C	XP_016879104.1:p.Leu1577Pro
XM_017023616.1:c.4601T>C	XP_016879105.1:p.Leu1534Pro
XM_017023617.1:c.4697T>C	XP_016879106.1:p.Leu1566Pro
XM_017023618.1:c.3443T>C	XP_016879107.1:p.Leu1148Pro
XM_024450413.1:c.4532T>C	XP_024306181.1:p.Leu1511Pro
NM_000548.5:c.4733T>C MANE Select	NP_000539.2:p.Leu1578Pro
NM_001370404.1:c.4601T>C	NP_001357333.1:p.Leu1534Pro
NM_001370405.1:c.4604T>C	NP_001357334.1:p.Leu1535Pro
NM_001077183.3:c.4532T>C	NP_001070651.1:p.Leu1511Pro
NM_001114382.3:c.4664T>C	NP_001107854.1:p.Leu1555Pro
NM_001318827.2:c.4424T>C	NP_001305756.1:p.Leu1475Pro
NM_001318829.2:c.4388T>C	NP_001305758.1:p.Leu1463Pro
NM_001318831.2:c.4001T>C	NP_001305760.1:p.Leu1334Pro
NM_001318832.2:c.4565T>C	NP_001305761.1:p.Leu1522Pro
NM_001363528.2:c.4535T>C	NP_001350457.1:p.Leu1512Pro
NM_021055.3:c.4604T>C	NP_066399.2:p.Leu1535Pro