Canonical Allele Identifier: CA054466

Gene: TSC2

Linked Data

• ClinVar Variation Id: 468148
• ClinVar RCV Id: RCV001023741 ; RCV001474994
• dbSNP Id: rs151298910
• ExAC: 16:2138278 C / T
• gnomAD v2: 16-2138278-C-T
• gnomAD v4: 16-2088277-C-T
• MyVariant Identifiers: chr16:g.2138278C>T (hg19) ; chr16:g.2088277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088277C>T , CM000678.2:g.2088277C>T	GRCh38
NC_000016.9:g.2138278C>T , CM000678.1:g.2138278C>T	GRCh37
NC_000016.8:g.2078279C>T	NCBI36
NG_005895.1:g.43972C>T , LRG_487:g.43972C>T
NG_008617.1:g.54944G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3560C>T	ENSP00000455997.2:n.*3560C>T
ENST00000642206.2:c.5058C>T	ENSP00000495146.2:p.Pro1686=
ENST00000642365.2:c.5208C>T	ENSP00000495459.2:p.Pro1736=
ENST00000644417.2:c.*5724C>T	ENSP00000493912.2:n.*5724C>T
ENST00000646464.2:c.*7960C>T	ENSP00000496610.2:n.*7960C>T
ENST00000219476.9:c.5211C>T MANE Select	ENSP00000219476.3:p.Pro1737=
ENST00000350773.9:c.5142C>T	ENSP00000344383.4:p.Pro1714=
ENST00000401874.7:c.5010C>T	ENSP00000384468.2:p.Pro1670=
ENST00000568454.6:c.5043C>T	ENSP00000454487.1:p.Pro1681=
ENST00000569110.2:c.1434C>T
ENST00000569930.2:n.3093C>T
ENST00000642365.1:c.3865C>T
ENST00000642561.1:c.5070C>T	ENSP00000495099.1:p.Pro1690=
ENST00000642791.1:n.808C>T
ENST00000642797.1:c.5013C>T	ENSP00000493846.1:p.Pro1671=
ENST00000642936.1:c.5079C>T	ENSP00000494514.1:p.Pro1693=
ENST00000643088.1:c.5004C>T	ENSP00000494747.1:p.Pro1668=
ENST00000643426.1:n.2859C>T
ENST00000643946.1:c.5136C>T	ENSP00000495927.1:p.Pro1712=
ENST00000644043.1:c.5082C>T	ENSP00000496262.1:p.Pro1694=
ENST00000644329.1:c.5097C>T	ENSP00000496611.1:p.Pro1699=
ENST00000644335.1:c.5007C>T	ENSP00000496317.1:p.Pro1669=
ENST00000644399.1:c.5132C>T
ENST00000645024.1:n.3295C>T
ENST00000646388.1:c.5205C>T	ENSP00000495921.1:p.Pro1735=
ENST00000646634.1:n.4026C>T
ENST00000646674.1:n.2463C>T
ENST00000647042.1:n.2434C>T
ENST00000647180.1:n.2324C>T
ENST00000219476.7:c.5211C>T	ENSP00000219476.3:p.Pro1737=
ENST00000350773.8:c.5142C>T	ENSP00000344383.4:p.Pro1714=
ENST00000382538.10:c.4866C>T	ENSP00000371978.6:p.Pro1622=
ENST00000401874.6:c.5010C>T	ENSP00000384468.2:p.Pro1670=
ENST00000439117.6:c.*4378C>T	ENSP00000406980.2:n.*4378C>T
ENST00000439673.6:c.4902C>T	ENSP00000399232.2:p.Pro1634=
ENST00000497886.5:n.2934C>T
ENST00000568454.5:c.5043C>T	ENSP00000454487.1:p.Pro1681=
ENST00000569110.1:c.1393C>T
ENST00000569930.1:n.2326C>T
NM_000548.3:c.5211C>T , LRG_487t1:c.5211C>T	NP_000539.2:p.Pro1737=
NM_001077183.1:c.5010C>T	NP_001070651.1:p.Pro1670=
NM_001114382.1:c.5142C>T	NP_001107854.1:p.Pro1714=
XM_005255529.3:c.5082C>T	XP_005255586.2:p.Pro1694=
XM_005255531.3:c.5013C>T	XP_005255588.2:p.Pro1671=
XM_011522636.1:c.5265C>T	XP_011520938.1:p.Pro1755=
XM_011522637.1:c.5262C>T	XP_011520939.1:p.Pro1754=
XM_011522638.1:c.5154C>T	XP_011520940.1:p.Pro1718=
XM_011522639.1:c.5136C>T	XP_011520941.1:p.Pro1712=
XM_011522640.1:c.5133C>T	XP_011520942.1:p.Pro1711=
XM_011522641.1:c.4902C>T	XP_011520943.1:p.Pro1634=
NM_000548.4:c.5211C>T	NP_000539.2:p.Pro1737=
NM_001077183.2:c.5010C>T	NP_001070651.1:p.Pro1670=
NM_001114382.2:c.5142C>T	NP_001107854.1:p.Pro1714=
NM_001318827.1:c.4902C>T	NP_001305756.1:p.Pro1634=
NM_001318829.1:c.4866C>T	NP_001305758.1:p.Pro1622=
NM_001318831.1:c.4479C>T	NP_001305760.1:p.Pro1493=
NM_001318832.1:c.5043C>T	NP_001305761.1:p.Pro1681=
NM_001363528.1:c.5013C>T	NP_001350457.1:p.Pro1671=
NM_021055.2:c.5082C>T	NP_066399.2:p.Pro1694=
XM_005255531.4:c.5013C>T	XP_005255588.2:p.Pro1671=
XM_011522636.2:c.5265C>T	XP_011520938.1:p.Pro1755=
XM_011522637.2:c.5262C>T	XP_011520939.1:p.Pro1754=
XM_011522638.2:c.5427C>T	XP_011520940.2:p.Pro1809=
XM_011522639.2:c.5136C>T	XP_011520941.1:p.Pro1712=
XM_011522640.2:c.5133C>T	XP_011520942.1:p.Pro1711=
XM_017023615.1:c.5208C>T	XP_016879104.1:p.Pro1736=
XM_017023616.1:c.5079C>T	XP_016879105.1:p.Pro1693=
XM_017023617.1:c.5175C>T	XP_016879106.1:p.Pro1725=
XM_017023618.1:c.3921C>T	XP_016879107.1:p.Pro1307=
XM_024450413.1:c.5097C>T	XP_024306181.1:p.Pro1699=
NM_000548.5:c.5211C>T MANE Select	NP_000539.2:p.Pro1737=
NM_001370404.1:c.5079C>T	NP_001357333.1:p.Pro1693=
NM_001370405.1:c.5070C>T	NP_001357334.1:p.Pro1690=
NM_001077183.3:c.5010C>T	NP_001070651.1:p.Pro1670=
NM_001114382.3:c.5142C>T	NP_001107854.1:p.Pro1714=
NM_001318827.2:c.4902C>T	NP_001305756.1:p.Pro1634=
NM_001318829.2:c.4866C>T	NP_001305758.1:p.Pro1622=
NM_001318831.2:c.4479C>T	NP_001305760.1:p.Pro1493=
NM_001318832.2:c.5043C>T	NP_001305761.1:p.Pro1681=
NM_001363528.2:c.5013C>T	NP_001350457.1:p.Pro1671=
NM_021055.3:c.5082C>T	NP_066399.2:p.Pro1694=