Canonical Allele Identifier: CA394309123

Gene: TSC2

Linked Data

• dbSNP Id: rs954041989
• MyVariant Identifiers: chr16:g.2105418A>T (hg19) ; chr16:g.2055417A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2055417A>T , CM000678.2:g.2055417A>T	GRCh38
NC_000016.9:g.2105418A>T , CM000678.1:g.2105418A>T	GRCh37
NC_000016.8:g.2045419A>T	NCBI36
NG_005895.1:g.11112A>T , LRG_487:g.11112A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.497A>T	ENSP00000455997.2:p.Gln166Leu
ENST00000642206.2:c.542A>T	ENSP00000495146.2:p.Gln181Leu
ENST00000642365.2:c.497A>T	ENSP00000495459.2:p.Gln166Leu
ENST00000644417.2:c.482-2A>T	ENSP00000493912.2:n.482-2A>T
ENST00000646464.2:c.226-563A>T	ENSP00000496610.2:n.226-563A>T
ENST00000219476.9:c.497A>T MANE Select	ENSP00000219476.3:p.Gln166Leu
ENST00000350773.9:c.497A>T	ENSP00000344383.4:p.Gln166Leu
ENST00000401874.7:c.497A>T	ENSP00000384468.2:p.Gln166Leu
ENST00000432909.3:c.271A>T
ENST00000461648.3:n.2411A>T
ENST00000568454.6:c.530A>T	ENSP00000454487.1:p.Gln177Leu
ENST00000568692.2:n.1220A>T
ENST00000642561.1:c.497A>T	ENSP00000495099.1:p.Gln166Leu
ENST00000642797.1:c.497A>T	ENSP00000493846.1:p.Gln166Leu
ENST00000642812.1:n.554A>T
ENST00000642936.1:c.497A>T	ENSP00000494514.1:p.Gln166Leu
ENST00000643088.1:c.497A>T	ENSP00000494747.1:p.Gln166Leu
ENST00000643120.1:n.523-2A>T
ENST00000643149.1:n.1450A>T
ENST00000643298.1:c.497A>T	ENSP00000494393.1:p.Gln166Leu
ENST00000643745.1:c.497A>T	ENSP00000495948.1:p.Gln166Leu
ENST00000643946.1:c.497A>T	ENSP00000495927.1:p.Gln166Leu
ENST00000644043.1:c.497A>T	ENSP00000496262.1:p.Gln166Leu
ENST00000644135.1:c.497A>T	ENSP00000495644.1:p.Gln166Leu
ENST00000644222.1:n.584A>T
ENST00000644329.1:c.497A>T	ENSP00000496611.1:p.Gln166Leu
ENST00000644335.1:c.497A>T	ENSP00000496317.1:p.Gln166Leu
ENST00000644399.1:c.490A>T
ENST00000644417.1:c.197-2A>T	ENSP00000493912.1:n.197-2A>T
ENST00000644665.1:n.614A>T
ENST00000645591.1:n.1468A>T
ENST00000646388.1:c.497A>T	ENSP00000495921.1:p.Gln166Leu
ENST00000646823.1:n.885A>T
ENST00000647234.1:n.1200-2A>T
ENST00000647242.1:n.1165A>T
ENST00000219476.7:c.497A>T	ENSP00000219476.3:p.Gln166Leu
ENST00000350773.8:c.497A>T	ENSP00000344383.4:p.Gln166Leu
ENST00000382538.10:c.350A>T	ENSP00000371978.6:p.Gln117Leu
ENST00000401874.6:c.497A>T	ENSP00000384468.2:p.Gln166Leu
ENST00000432909.2:c.271A>T
ENST00000439117.6:c.226-779A>T	ENSP00000406980.2:n.226-779A>T
ENST00000439673.6:c.386A>T	ENSP00000399232.2:p.Gln129Leu
ENST00000568454.5:c.530A>T	ENSP00000454487.1:p.Gln177Leu
ENST00000568692.1:n.161A>T
NM_000548.3:c.497A>T , LRG_487t1:c.497A>T	NP_000539.2:p.Gln166Leu
NM_001077183.1:c.497A>T	NP_001070651.1:p.Gln166Leu
NM_001114382.1:c.497A>T	NP_001107854.1:p.Gln166Leu
XM_005255529.3:c.497A>T	XP_005255586.2:p.Gln166Leu
XM_005255531.3:c.497A>T	XP_005255588.2:p.Gln166Leu
XM_011522636.1:c.497A>T	XP_011520938.1:p.Gln166Leu
XM_011522637.1:c.497A>T	XP_011520939.1:p.Gln166Leu
XM_011522638.1:c.386A>T	XP_011520940.1:p.Gln129Leu
XM_011522639.1:c.497A>T	XP_011520941.1:p.Gln166Leu
XM_011522640.1:c.497A>T	XP_011520942.1:p.Gln166Leu
XM_011522641.1:c.386A>T	XP_011520943.1:p.Gln129Leu
NM_000548.4:c.497A>T	NP_000539.2:p.Gln166Leu
NM_001077183.2:c.497A>T	NP_001070651.1:p.Gln166Leu
NM_001114382.2:c.497A>T	NP_001107854.1:p.Gln166Leu
NM_001318827.1:c.386A>T	NP_001305756.1:p.Gln129Leu
NM_001318829.1:c.350A>T	NP_001305758.1:p.Gln117Leu
NM_001318831.1:c.-1-779A>T	NP_001305760.1:n.-1-779A>T
NM_001318832.1:c.530A>T	NP_001305761.1:p.Gln177Leu
NM_001363528.1:c.497A>T	NP_001350457.1:p.Gln166Leu
NM_021055.2:c.497A>T	NP_066399.2:p.Gln166Leu
XM_005255531.4:c.497A>T	XP_005255588.2:p.Gln166Leu
XM_011522636.2:c.497A>T	XP_011520938.1:p.Gln166Leu
XM_011522637.2:c.497A>T	XP_011520939.1:p.Gln166Leu
XM_011522638.2:c.659A>T	XP_011520940.2:p.Gln220Leu
XM_011522639.2:c.497A>T	XP_011520941.1:p.Gln166Leu
XM_011522640.2:c.497A>T	XP_011520942.1:p.Gln166Leu
XM_017023615.1:c.497A>T	XP_016879104.1:p.Gln166Leu
XM_017023616.1:c.497A>T	XP_016879105.1:p.Gln166Leu
XM_017023617.1:c.659A>T	XP_016879106.1:p.Gln220Leu
XM_017023618.1:c.-935A>T	XP_016879107.1:n.-935A>T
XM_024450413.1:c.497A>T	XP_024306181.1:p.Gln166Leu
NM_000548.5:c.497A>T MANE Select	NP_000539.2:p.Gln166Leu
NM_001370404.1:c.497A>T	NP_001357333.1:p.Gln166Leu
NM_001370405.1:c.497A>T	NP_001357334.1:p.Gln166Leu
NM_001077183.3:c.497A>T	NP_001070651.1:p.Gln166Leu
NM_001114382.3:c.497A>T	NP_001107854.1:p.Gln166Leu
NM_001318827.2:c.386A>T	NP_001305756.1:p.Gln129Leu
NM_001318829.2:c.350A>T	NP_001305758.1:p.Gln117Leu
NM_001318831.2:c.-1-779A>T	NP_001305760.1:n.-1-779A>T
NM_001318832.2:c.530A>T	NP_001305761.1:p.Gln177Leu
NM_001363528.2:c.497A>T	NP_001350457.1:p.Gln166Leu
NM_021055.3:c.497A>T	NP_066399.2:p.Gln166Leu