Canonical Allele Identifier: CA394315996

Gene: TSC2

Linked Data

• dbSNP Id: rs756064266
• MyVariant Identifiers: chr16:g.2138568A>T (hg19) ; chr16:g.2088567A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088567A>T , CM000678.2:g.2088567A>T	GRCh38
NC_000016.9:g.2138568A>T , CM000678.1:g.2138568A>T	GRCh37
NC_000016.8:g.2078569A>T	NCBI36
NG_005895.1:g.44262A>T , LRG_487:g.44262A>T
NG_008617.1:g.54654T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3730A>T	ENSP00000455997.2:n.*3730A>T
ENST00000642206.2:c.5228A>T	ENSP00000495146.2:p.Lys1743Met
ENST00000642365.2:c.5378A>T	ENSP00000495459.2:p.Lys1793Met
ENST00000644417.2:c.*5894A>T	ENSP00000493912.2:n.*5894A>T
ENST00000646464.2:c.*8130A>T	ENSP00000496610.2:n.*8130A>T
ENST00000219476.9:c.5381A>T MANE Select	ENSP00000219476.3:p.Lys1794Met
ENST00000350773.9:c.5312A>T	ENSP00000344383.4:p.Lys1771Met
ENST00000401874.7:c.5180A>T	ENSP00000384468.2:p.Lys1727Met
ENST00000568454.6:c.5213A>T	ENSP00000454487.1:p.Lys1738Met
ENST00000569110.2:c.1604A>T
ENST00000569930.2:n.3263A>T
ENST00000642365.1:c.4035A>T
ENST00000642561.1:c.5240A>T	ENSP00000495099.1:p.Lys1747Met
ENST00000642791.1:n.978A>T
ENST00000642797.1:c.5183A>T	ENSP00000493846.1:p.Lys1728Met
ENST00000642936.1:c.5249A>T	ENSP00000494514.1:p.Lys1750Met
ENST00000643088.1:c.5174A>T	ENSP00000494747.1:p.Lys1725Met
ENST00000643426.1:n.3029A>T
ENST00000643946.1:c.5306A>T	ENSP00000495927.1:p.Lys1769Met
ENST00000644043.1:c.5252A>T	ENSP00000496262.1:p.Lys1751Met
ENST00000644329.1:c.5267A>T	ENSP00000496611.1:p.Lys1756Met
ENST00000644335.1:c.5177A>T	ENSP00000496317.1:p.Lys1726Met
ENST00000644399.1:c.5302A>T
ENST00000645024.1:n.3465A>T
ENST00000646388.1:c.5375A>T	ENSP00000495921.1:p.Lys1792Met
ENST00000646634.1:n.4196A>T
ENST00000646674.1:n.2633A>T
ENST00000647042.1:n.2604A>T
ENST00000647180.1:n.2494A>T
ENST00000219476.7:c.5381A>T	ENSP00000219476.3:p.Lys1794Met
ENST00000350773.8:c.5312A>T	ENSP00000344383.4:p.Lys1771Met
ENST00000382538.10:c.5036A>T	ENSP00000371978.6:p.Lys1679Met
ENST00000401874.6:c.5180A>T	ENSP00000384468.2:p.Lys1727Met
ENST00000439117.6:c.*4548A>T	ENSP00000406980.2:n.*4548A>T
ENST00000439673.6:c.5072A>T	ENSP00000399232.2:p.Lys1691Met
ENST00000497886.5:n.3104A>T
ENST00000568454.5:c.5213A>T	ENSP00000454487.1:p.Lys1738Met
ENST00000569110.1:c.1563A>T
ENST00000569930.1:n.2496A>T
NM_000548.3:c.5381A>T , LRG_487t1:c.5381A>T	NP_000539.2:p.Lys1794Met
NM_001077183.1:c.5180A>T	NP_001070651.1:p.Lys1727Met
NM_001114382.1:c.5312A>T	NP_001107854.1:p.Lys1771Met
XM_005255529.3:c.5252A>T	XP_005255586.2:p.Lys1751Met
XM_005255531.3:c.5183A>T	XP_005255588.2:p.Lys1728Met
XM_011522636.1:c.5435A>T	XP_011520938.1:p.Lys1812Met
XM_011522637.1:c.5432A>T	XP_011520939.1:p.Lys1811Met
XM_011522638.1:c.5324A>T	XP_011520940.1:p.Lys1775Met
XM_011522639.1:c.5306A>T	XP_011520941.1:p.Lys1769Met
XM_011522640.1:c.5303A>T	XP_011520942.1:p.Lys1768Met
XM_011522641.1:c.5072A>T	XP_011520943.1:p.Lys1691Met
NM_000548.4:c.5381A>T	NP_000539.2:p.Lys1794Met
NM_001077183.2:c.5180A>T	NP_001070651.1:p.Lys1727Met
NM_001114382.2:c.5312A>T	NP_001107854.1:p.Lys1771Met
NM_001318827.1:c.5072A>T	NP_001305756.1:p.Lys1691Met
NM_001318829.1:c.5036A>T	NP_001305758.1:p.Lys1679Met
NM_001318831.1:c.4649A>T	NP_001305760.1:p.Lys1550Met
NM_001318832.1:c.5213A>T	NP_001305761.1:p.Lys1738Met
NM_001363528.1:c.5183A>T	NP_001350457.1:p.Lys1728Met
NM_021055.2:c.5252A>T	NP_066399.2:p.Lys1751Met
XM_005255531.4:c.5183A>T	XP_005255588.2:p.Lys1728Met
XM_011522636.2:c.5435A>T	XP_011520938.1:p.Lys1812Met
XM_011522637.2:c.5432A>T	XP_011520939.1:p.Lys1811Met
XM_011522638.2:c.5597A>T	XP_011520940.2:p.Lys1866Met
XM_011522639.2:c.5306A>T	XP_011520941.1:p.Lys1769Met
XM_011522640.2:c.5303A>T	XP_011520942.1:p.Lys1768Met
XM_017023615.1:c.5378A>T	XP_016879104.1:p.Lys1793Met
XM_017023616.1:c.5249A>T	XP_016879105.1:p.Lys1750Met
XM_017023617.1:c.5345A>T	XP_016879106.1:p.Lys1782Met
XM_017023618.1:c.4091A>T	XP_016879107.1:p.Lys1364Met
XM_024450413.1:c.5267A>T	XP_024306181.1:p.Lys1756Met
NM_000548.5:c.5381A>T MANE Select	NP_000539.2:p.Lys1794Met
NM_001370404.1:c.5249A>T	NP_001357333.1:p.Lys1750Met
NM_001370405.1:c.5240A>T	NP_001357334.1:p.Lys1747Met
NM_001077183.3:c.5180A>T	NP_001070651.1:p.Lys1727Met
NM_001114382.3:c.5312A>T	NP_001107854.1:p.Lys1771Met
NM_001318827.2:c.5072A>T	NP_001305756.1:p.Lys1691Met
NM_001318829.2:c.5036A>T	NP_001305758.1:p.Lys1679Met
NM_001318831.2:c.4649A>T	NP_001305760.1:p.Lys1550Met
NM_001318832.2:c.5213A>T	NP_001305761.1:p.Lys1738Met
NM_001363528.2:c.5183A>T	NP_001350457.1:p.Lys1728Met
NM_021055.3:c.5252A>T	NP_066399.2:p.Lys1751Met