Canonical Allele Identifier: CA055164

Gene: TSC2

Linked Data

• ClinVar Variation Id: 405968
• ClinVar RCV Id: RCV000471005 ; RCV000562164 ; RCV000610568 ; RCV003392272
• dbSNP Id: rs778395191
• ExAC: 16:2138526 C / T
• gnomAD v2: 16-2138526-C-T
• gnomAD v3: 16-2088525-C-T
• gnomAD v4: 16-2088525-C-T
• MyVariant Identifiers: chr16:g.2138526C>T (hg19) ; chr16:g.2088525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088525C>T , CM000678.2:g.2088525C>T	GRCh38
NC_000016.9:g.2138526C>T , CM000678.1:g.2138526C>T	GRCh37
NC_000016.8:g.2078527C>T	NCBI36
NG_005895.1:g.44220C>T , LRG_487:g.44220C>T
NG_008617.1:g.54696G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3688C>T	ENSP00000455997.2:n.*3688C>T
ENST00000642206.2:c.5186C>T	ENSP00000495146.2:p.Thr1729Ile
ENST00000642365.2:c.5336C>T	ENSP00000495459.2:p.Thr1779Ile
ENST00000644417.2:c.*5852C>T	ENSP00000493912.2:n.*5852C>T
ENST00000646464.2:c.*8088C>T	ENSP00000496610.2:n.*8088C>T
ENST00000219476.9:c.5339C>T MANE Select	ENSP00000219476.3:p.Thr1780Ile
ENST00000350773.9:c.5270C>T	ENSP00000344383.4:p.Thr1757Ile
ENST00000401874.7:c.5138C>T	ENSP00000384468.2:p.Thr1713Ile
ENST00000568454.6:c.5171C>T	ENSP00000454487.1:p.Thr1724Ile
ENST00000569110.2:c.1562C>T
ENST00000569930.2:n.3221C>T
ENST00000642365.1:c.3993C>T
ENST00000642561.1:c.5198C>T	ENSP00000495099.1:p.Thr1733Ile
ENST00000642791.1:n.936C>T
ENST00000642797.1:c.5141C>T	ENSP00000493846.1:p.Thr1714Ile
ENST00000642936.1:c.5207C>T	ENSP00000494514.1:p.Thr1736Ile
ENST00000643088.1:c.5132C>T	ENSP00000494747.1:p.Thr1711Ile
ENST00000643426.1:n.2987C>T
ENST00000643946.1:c.5264C>T	ENSP00000495927.1:p.Thr1755Ile
ENST00000644043.1:c.5210C>T	ENSP00000496262.1:p.Thr1737Ile
ENST00000644329.1:c.5225C>T	ENSP00000496611.1:p.Thr1742Ile
ENST00000644335.1:c.5135C>T	ENSP00000496317.1:p.Thr1712Ile
ENST00000644399.1:c.5260C>T
ENST00000645024.1:n.3423C>T
ENST00000646388.1:c.5333C>T	ENSP00000495921.1:p.Thr1778Ile
ENST00000646634.1:n.4154C>T
ENST00000646674.1:n.2591C>T
ENST00000647042.1:n.2562C>T
ENST00000647180.1:n.2452C>T
ENST00000219476.7:c.5339C>T	ENSP00000219476.3:p.Thr1780Ile
ENST00000350773.8:c.5270C>T	ENSP00000344383.4:p.Thr1757Ile
ENST00000382538.10:c.4994C>T	ENSP00000371978.6:p.Thr1665Ile
ENST00000401874.6:c.5138C>T	ENSP00000384468.2:p.Thr1713Ile
ENST00000439117.6:c.*4506C>T	ENSP00000406980.2:n.*4506C>T
ENST00000439673.6:c.5030C>T	ENSP00000399232.2:p.Thr1677Ile
ENST00000497886.5:n.3062C>T
ENST00000568454.5:c.5171C>T	ENSP00000454487.1:p.Thr1724Ile
ENST00000569110.1:c.1521C>T
ENST00000569930.1:n.2454C>T
NM_000548.3:c.5339C>T , LRG_487t1:c.5339C>T	NP_000539.2:p.Thr1780Ile
NM_001077183.1:c.5138C>T	NP_001070651.1:p.Thr1713Ile
NM_001114382.1:c.5270C>T	NP_001107854.1:p.Thr1757Ile
XM_005255529.3:c.5210C>T	XP_005255586.2:p.Thr1737Ile
XM_005255531.3:c.5141C>T	XP_005255588.2:p.Thr1714Ile
XM_011522636.1:c.5393C>T	XP_011520938.1:p.Thr1798Ile
XM_011522637.1:c.5390C>T	XP_011520939.1:p.Thr1797Ile
XM_011522638.1:c.5282C>T	XP_011520940.1:p.Thr1761Ile
XM_011522639.1:c.5264C>T	XP_011520941.1:p.Thr1755Ile
XM_011522640.1:c.5261C>T	XP_011520942.1:p.Thr1754Ile
XM_011522641.1:c.5030C>T	XP_011520943.1:p.Thr1677Ile
NM_000548.4:c.5339C>T	NP_000539.2:p.Thr1780Ile
NM_001077183.2:c.5138C>T	NP_001070651.1:p.Thr1713Ile
NM_001114382.2:c.5270C>T	NP_001107854.1:p.Thr1757Ile
NM_001318827.1:c.5030C>T	NP_001305756.1:p.Thr1677Ile
NM_001318829.1:c.4994C>T	NP_001305758.1:p.Thr1665Ile
NM_001318831.1:c.4607C>T	NP_001305760.1:p.Thr1536Ile
NM_001318832.1:c.5171C>T	NP_001305761.1:p.Thr1724Ile
NM_001363528.1:c.5141C>T	NP_001350457.1:p.Thr1714Ile
NM_021055.2:c.5210C>T	NP_066399.2:p.Thr1737Ile
XM_005255531.4:c.5141C>T	XP_005255588.2:p.Thr1714Ile
XM_011522636.2:c.5393C>T	XP_011520938.1:p.Thr1798Ile
XM_011522637.2:c.5390C>T	XP_011520939.1:p.Thr1797Ile
XM_011522638.2:c.5555C>T	XP_011520940.2:p.Thr1852Ile
XM_011522639.2:c.5264C>T	XP_011520941.1:p.Thr1755Ile
XM_011522640.2:c.5261C>T	XP_011520942.1:p.Thr1754Ile
XM_017023615.1:c.5336C>T	XP_016879104.1:p.Thr1779Ile
XM_017023616.1:c.5207C>T	XP_016879105.1:p.Thr1736Ile
XM_017023617.1:c.5303C>T	XP_016879106.1:p.Thr1768Ile
XM_017023618.1:c.4049C>T	XP_016879107.1:p.Thr1350Ile
XM_024450413.1:c.5225C>T	XP_024306181.1:p.Thr1742Ile
NM_000548.5:c.5339C>T MANE Select	NP_000539.2:p.Thr1780Ile
NM_001370404.1:c.5207C>T	NP_001357333.1:p.Thr1736Ile
NM_001370405.1:c.5198C>T	NP_001357334.1:p.Thr1733Ile
NM_001077183.3:c.5138C>T	NP_001070651.1:p.Thr1713Ile
NM_001114382.3:c.5270C>T	NP_001107854.1:p.Thr1757Ile
NM_001318827.2:c.5030C>T	NP_001305756.1:p.Thr1677Ile
NM_001318829.2:c.4994C>T	NP_001305758.1:p.Thr1665Ile
NM_001318831.2:c.4607C>T	NP_001305760.1:p.Thr1536Ile
NM_001318832.2:c.5171C>T	NP_001305761.1:p.Thr1724Ile
NM_001363528.2:c.5141C>T	NP_001350457.1:p.Thr1714Ile
NM_021055.3:c.5210C>T	NP_066399.2:p.Thr1737Ile