Canonical Allele Identifier: CA394310991

Gene: TSC2

Linked Data

• ClinVar Variation Id: 952882
• ClinVar RCV Id: RCV001225081 ; RCV004032529
• dbSNP Id: rs757221445
• COSMIC: COSM4826426 ; COSM4826427
• MyVariant Identifiers: chr16:g.2137872C>G (hg19) ; chr16:g.2087871C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087871C>G , CM000678.2:g.2087871C>G	GRCh38
NC_000016.9:g.2137872C>G , CM000678.1:g.2137872C>G	GRCh37
NC_000016.8:g.2077873C>G	NCBI36
NG_005895.1:g.43566C>G , LRG_487:g.43566C>G
NG_008617.1:g.55350G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3347C>G	ENSP00000455997.2:n.*3347C>G
ENST00000642206.2:c.4845C>G	ENSP00000495146.2:p.Phe1615Leu
ENST00000642365.2:c.4995C>G	ENSP00000495459.2:p.Phe1665Leu
ENST00000644417.2:c.*5511C>G	ENSP00000493912.2:n.*5511C>G
ENST00000646464.2:c.*7747C>G	ENSP00000496610.2:n.*7747C>G
ENST00000219476.9:c.4998C>G MANE Select	ENSP00000219476.3:p.Phe1666Leu
ENST00000350773.9:c.4929C>G	ENSP00000344383.4:p.Phe1643Leu
ENST00000401874.7:c.4797C>G	ENSP00000384468.2:p.Phe1599Leu
ENST00000568454.6:c.4830C>G	ENSP00000454487.1:p.Phe1610Leu
ENST00000569110.2:c.1221C>G
ENST00000569930.2:n.2880C>G
ENST00000642365.1:c.3652C>G
ENST00000642561.1:c.4869C>G	ENSP00000495099.1:p.Phe1623Leu
ENST00000642791.1:n.595C>G
ENST00000642797.1:c.4800C>G	ENSP00000493846.1:p.Phe1600Leu
ENST00000642936.1:c.4866C>G	ENSP00000494514.1:p.Phe1622Leu
ENST00000643088.1:c.4791C>G	ENSP00000494747.1:p.Phe1597Leu
ENST00000643177.1:n.1012C>G
ENST00000643426.1:n.2646C>G
ENST00000643946.1:c.4923C>G	ENSP00000495927.1:p.Phe1641Leu
ENST00000644043.1:c.4869C>G	ENSP00000496262.1:p.Phe1623Leu
ENST00000644278.1:n.480C>G
ENST00000644329.1:c.4797C>G	ENSP00000496611.1:p.Phe1599Leu
ENST00000644335.1:c.4794C>G	ENSP00000496317.1:p.Phe1598Leu
ENST00000644399.1:c.4919C>G
ENST00000645024.1:n.3082C>G
ENST00000646388.1:c.4992C>G	ENSP00000495921.1:p.Phe1664Leu
ENST00000646634.1:n.3813C>G
ENST00000646674.1:n.2250C>G
ENST00000647042.1:n.2221C>G
ENST00000647180.1:n.2111C>G
ENST00000219476.7:c.4998C>G	ENSP00000219476.3:p.Phe1666Leu
ENST00000350773.8:c.4929C>G	ENSP00000344383.4:p.Phe1643Leu
ENST00000382538.10:c.4653C>G	ENSP00000371978.6:p.Phe1551Leu
ENST00000401874.6:c.4797C>G	ENSP00000384468.2:p.Phe1599Leu
ENST00000439117.6:c.*4165C>G	ENSP00000406980.2:n.*4165C>G
ENST00000439673.6:c.4689C>G	ENSP00000399232.2:p.Phe1563Leu
ENST00000497886.5:n.2721C>G
ENST00000568454.5:c.4830C>G	ENSP00000454487.1:p.Phe1610Leu
ENST00000569110.1:c.1180C>G
ENST00000569930.1:n.2113C>G
NM_000548.3:c.4998C>G , LRG_487t1:c.4998C>G	NP_000539.2:p.Phe1666Leu
NM_001077183.1:c.4797C>G	NP_001070651.1:p.Phe1599Leu
NM_001114382.1:c.4929C>G	NP_001107854.1:p.Phe1643Leu
XM_005255529.3:c.4869C>G	XP_005255586.2:p.Phe1623Leu
XM_005255531.3:c.4800C>G	XP_005255588.2:p.Phe1600Leu
XM_011522636.1:c.5052C>G	XP_011520938.1:p.Phe1684Leu
XM_011522637.1:c.5049C>G	XP_011520939.1:p.Phe1683Leu
XM_011522638.1:c.4941C>G	XP_011520940.1:p.Phe1647Leu
XM_011522639.1:c.4923C>G	XP_011520941.1:p.Phe1641Leu
XM_011522640.1:c.4920C>G	XP_011520942.1:p.Phe1640Leu
XM_011522641.1:c.4689C>G	XP_011520943.1:p.Phe1563Leu
NM_000548.4:c.4998C>G	NP_000539.2:p.Phe1666Leu
NM_001077183.2:c.4797C>G	NP_001070651.1:p.Phe1599Leu
NM_001114382.2:c.4929C>G	NP_001107854.1:p.Phe1643Leu
NM_001318827.1:c.4689C>G	NP_001305756.1:p.Phe1563Leu
NM_001318829.1:c.4653C>G	NP_001305758.1:p.Phe1551Leu
NM_001318831.1:c.4266C>G	NP_001305760.1:p.Phe1422Leu
NM_001318832.1:c.4830C>G	NP_001305761.1:p.Phe1610Leu
NM_001363528.1:c.4800C>G	NP_001350457.1:p.Phe1600Leu
NM_021055.2:c.4869C>G	NP_066399.2:p.Phe1623Leu
XM_005255531.4:c.4800C>G	XP_005255588.2:p.Phe1600Leu
XM_011522636.2:c.5052C>G	XP_011520938.1:p.Phe1684Leu
XM_011522637.2:c.5049C>G	XP_011520939.1:p.Phe1683Leu
XM_011522638.2:c.5214C>G	XP_011520940.2:p.Phe1738Leu
XM_011522639.2:c.4923C>G	XP_011520941.1:p.Phe1641Leu
XM_011522640.2:c.4920C>G	XP_011520942.1:p.Phe1640Leu
XM_017023615.1:c.4995C>G	XP_016879104.1:p.Phe1665Leu
XM_017023616.1:c.4866C>G	XP_016879105.1:p.Phe1622Leu
XM_017023617.1:c.4962C>G	XP_016879106.1:p.Phe1654Leu
XM_017023618.1:c.3708C>G	XP_016879107.1:p.Phe1236Leu
XM_024450413.1:c.4797C>G	XP_024306181.1:p.Phe1599Leu
NM_000548.5:c.4998C>G MANE Select	NP_000539.2:p.Phe1666Leu
NM_001370404.1:c.4866C>G	NP_001357333.1:p.Phe1622Leu
NM_001370405.1:c.4869C>G	NP_001357334.1:p.Phe1623Leu
NM_001077183.3:c.4797C>G	NP_001070651.1:p.Phe1599Leu
NM_001114382.3:c.4929C>G	NP_001107854.1:p.Phe1643Leu
NM_001318827.2:c.4689C>G	NP_001305756.1:p.Phe1563Leu
NM_001318829.2:c.4653C>G	NP_001305758.1:p.Phe1551Leu
NM_001318831.2:c.4266C>G	NP_001305760.1:p.Phe1422Leu
NM_001318832.2:c.4830C>G	NP_001305761.1:p.Phe1610Leu
NM_001363528.2:c.4800C>G	NP_001350457.1:p.Phe1600Leu
NM_021055.3:c.4869C>G	NP_066399.2:p.Phe1623Leu