Canonical Allele Identifier: CA394315682

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138528C>T (hg19) ; chr16:g.2088527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088527C>T , CM000678.2:g.2088527C>T	GRCh38
NC_000016.9:g.2138528C>T , CM000678.1:g.2138528C>T	GRCh37
NC_000016.8:g.2078529C>T	NCBI36
NG_005895.1:g.44222C>T , LRG_487:g.44222C>T
NG_008617.1:g.54694G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3690C>T	ENSP00000455997.2:n.*3690C>T
ENST00000642206.2:c.5188C>T	ENSP00000495146.2:p.Pro1730Ser
ENST00000642365.2:c.5338C>T	ENSP00000495459.2:p.Pro1780Ser
ENST00000644417.2:c.*5854C>T	ENSP00000493912.2:n.*5854C>T
ENST00000646464.2:c.*8090C>T	ENSP00000496610.2:n.*8090C>T
ENST00000219476.9:c.5341C>T MANE Select	ENSP00000219476.3:p.Pro1781Ser
ENST00000350773.9:c.5272C>T	ENSP00000344383.4:p.Pro1758Ser
ENST00000401874.7:c.5140C>T	ENSP00000384468.2:p.Pro1714Ser
ENST00000568454.6:c.5173C>T	ENSP00000454487.1:p.Pro1725Ser
ENST00000569110.2:c.1564C>T
ENST00000569930.2:n.3223C>T
ENST00000642365.1:c.3995C>T
ENST00000642561.1:c.5200C>T	ENSP00000495099.1:p.Pro1734Ser
ENST00000642791.1:n.938C>T
ENST00000642797.1:c.5143C>T	ENSP00000493846.1:p.Pro1715Ser
ENST00000642936.1:c.5209C>T	ENSP00000494514.1:p.Pro1737Ser
ENST00000643088.1:c.5134C>T	ENSP00000494747.1:p.Pro1712Ser
ENST00000643426.1:n.2989C>T
ENST00000643946.1:c.5266C>T	ENSP00000495927.1:p.Pro1756Ser
ENST00000644043.1:c.5212C>T	ENSP00000496262.1:p.Pro1738Ser
ENST00000644329.1:c.5227C>T	ENSP00000496611.1:p.Pro1743Ser
ENST00000644335.1:c.5137C>T	ENSP00000496317.1:p.Pro1713Ser
ENST00000644399.1:c.5262C>T
ENST00000645024.1:n.3425C>T
ENST00000646388.1:c.5335C>T	ENSP00000495921.1:p.Pro1779Ser
ENST00000646634.1:n.4156C>T
ENST00000646674.1:n.2593C>T
ENST00000647042.1:n.2564C>T
ENST00000647180.1:n.2454C>T
ENST00000219476.7:c.5341C>T	ENSP00000219476.3:p.Pro1781Ser
ENST00000350773.8:c.5272C>T	ENSP00000344383.4:p.Pro1758Ser
ENST00000382538.10:c.4996C>T	ENSP00000371978.6:p.Pro1666Ser
ENST00000401874.6:c.5140C>T	ENSP00000384468.2:p.Pro1714Ser
ENST00000439117.6:c.*4508C>T	ENSP00000406980.2:n.*4508C>T
ENST00000439673.6:c.5032C>T	ENSP00000399232.2:p.Pro1678Ser
ENST00000497886.5:n.3064C>T
ENST00000568454.5:c.5173C>T	ENSP00000454487.1:p.Pro1725Ser
ENST00000569110.1:c.1523C>T
ENST00000569930.1:n.2456C>T
NM_000548.3:c.5341C>T , LRG_487t1:c.5341C>T	NP_000539.2:p.Pro1781Ser
NM_001077183.1:c.5140C>T	NP_001070651.1:p.Pro1714Ser
NM_001114382.1:c.5272C>T	NP_001107854.1:p.Pro1758Ser
XM_005255529.3:c.5212C>T	XP_005255586.2:p.Pro1738Ser
XM_005255531.3:c.5143C>T	XP_005255588.2:p.Pro1715Ser
XM_011522636.1:c.5395C>T	XP_011520938.1:p.Pro1799Ser
XM_011522637.1:c.5392C>T	XP_011520939.1:p.Pro1798Ser
XM_011522638.1:c.5284C>T	XP_011520940.1:p.Pro1762Ser
XM_011522639.1:c.5266C>T	XP_011520941.1:p.Pro1756Ser
XM_011522640.1:c.5263C>T	XP_011520942.1:p.Pro1755Ser
XM_011522641.1:c.5032C>T	XP_011520943.1:p.Pro1678Ser
NM_000548.4:c.5341C>T	NP_000539.2:p.Pro1781Ser
NM_001077183.2:c.5140C>T	NP_001070651.1:p.Pro1714Ser
NM_001114382.2:c.5272C>T	NP_001107854.1:p.Pro1758Ser
NM_001318827.1:c.5032C>T	NP_001305756.1:p.Pro1678Ser
NM_001318829.1:c.4996C>T	NP_001305758.1:p.Pro1666Ser
NM_001318831.1:c.4609C>T	NP_001305760.1:p.Pro1537Ser
NM_001318832.1:c.5173C>T	NP_001305761.1:p.Pro1725Ser
NM_001363528.1:c.5143C>T	NP_001350457.1:p.Pro1715Ser
NM_021055.2:c.5212C>T	NP_066399.2:p.Pro1738Ser
XM_005255531.4:c.5143C>T	XP_005255588.2:p.Pro1715Ser
XM_011522636.2:c.5395C>T	XP_011520938.1:p.Pro1799Ser
XM_011522637.2:c.5392C>T	XP_011520939.1:p.Pro1798Ser
XM_011522638.2:c.5557C>T	XP_011520940.2:p.Pro1853Ser
XM_011522639.2:c.5266C>T	XP_011520941.1:p.Pro1756Ser
XM_011522640.2:c.5263C>T	XP_011520942.1:p.Pro1755Ser
XM_017023615.1:c.5338C>T	XP_016879104.1:p.Pro1780Ser
XM_017023616.1:c.5209C>T	XP_016879105.1:p.Pro1737Ser
XM_017023617.1:c.5305C>T	XP_016879106.1:p.Pro1769Ser
XM_017023618.1:c.4051C>T	XP_016879107.1:p.Pro1351Ser
XM_024450413.1:c.5227C>T	XP_024306181.1:p.Pro1743Ser
NM_000548.5:c.5341C>T MANE Select	NP_000539.2:p.Pro1781Ser
NM_001370404.1:c.5209C>T	NP_001357333.1:p.Pro1737Ser
NM_001370405.1:c.5200C>T	NP_001357334.1:p.Pro1734Ser
NM_001077183.3:c.5140C>T	NP_001070651.1:p.Pro1714Ser
NM_001114382.3:c.5272C>T	NP_001107854.1:p.Pro1758Ser
NM_001318827.2:c.5032C>T	NP_001305756.1:p.Pro1678Ser
NM_001318829.2:c.4996C>T	NP_001305758.1:p.Pro1666Ser
NM_001318831.2:c.4609C>T	NP_001305760.1:p.Pro1537Ser
NM_001318832.2:c.5173C>T	NP_001305761.1:p.Pro1725Ser
NM_001363528.2:c.5143C>T	NP_001350457.1:p.Pro1715Ser
NM_021055.3:c.5212C>T	NP_066399.2:p.Pro1738Ser