Canonical Allele Identifier: CA021147

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49327
• ClinVar RCV Id: RCV000042587 ; RCV001383217
• dbSNP Id: rs45446901
• gnomAD v4: 16-2086740-C-T
• COSMIC: COSM6355094 ; COSM6355095
• MyVariant Identifiers: chr16:g.2136741C>T (hg19) ; chr16:g.2086740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086740C>T , CM000678.2:g.2086740C>T	GRCh38
NC_000016.9:g.2136741C>T , CM000678.1:g.2136741C>T	GRCh37
NC_000016.8:g.2076742C>T	NCBI36
NG_005895.1:g.42435C>T , LRG_487:g.42435C>T
NG_008617.1:g.56481G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3207C>T	ENSP00000455997.2:n.*3207C>T
ENST00000642206.2:c.4705C>T	ENSP00000495146.2:p.His1569Tyr
ENST00000642365.2:c.4855C>T	ENSP00000495459.2:p.His1619Tyr
ENST00000644417.2:c.*5371C>T	ENSP00000493912.2:n.*5371C>T
ENST00000646464.2:c.*7607C>T	ENSP00000496610.2:n.*7607C>T
ENST00000219476.9:c.4858C>T MANE Select	ENSP00000219476.3:p.His1620Tyr
ENST00000350773.9:c.4789C>T	ENSP00000344383.4:p.His1597Tyr
ENST00000401874.7:c.4657C>T	ENSP00000384468.2:p.His1553Tyr
ENST00000568454.6:c.4690C>T	ENSP00000454487.1:p.His1564Tyr
ENST00000569110.2:c.1081C>T
ENST00000569930.2:n.2740C>T
ENST00000642365.1:c.3512C>T
ENST00000642561.1:c.4729C>T	ENSP00000495099.1:p.His1577Tyr
ENST00000642728.1:n.1040C>T
ENST00000642791.1:n.455C>T
ENST00000642797.1:c.4660C>T	ENSP00000493846.1:p.His1554Tyr
ENST00000642936.1:c.4726C>T	ENSP00000494514.1:p.His1576Tyr
ENST00000643088.1:c.4651C>T	ENSP00000494747.1:p.His1551Tyr
ENST00000643177.1:n.872C>T
ENST00000643426.1:n.2506C>T
ENST00000643946.1:c.4783C>T	ENSP00000495927.1:p.His1595Tyr
ENST00000644043.1:c.4729C>T	ENSP00000496262.1:p.His1577Tyr
ENST00000644278.1:n.340C>T
ENST00000644329.1:c.4657C>T	ENSP00000496611.1:p.His1553Tyr
ENST00000644335.1:c.4654C>T	ENSP00000496317.1:p.His1552Tyr
ENST00000644399.1:c.4779C>T
ENST00000645024.1:n.2942C>T
ENST00000646388.1:c.4852C>T	ENSP00000495921.1:p.His1618Tyr
ENST00000646557.1:n.19C>T
ENST00000646634.1:n.3673C>T
ENST00000646674.1:n.2110C>T
ENST00000647042.1:n.2081C>T
ENST00000647180.1:n.1971C>T
ENST00000219476.7:c.4858C>T	ENSP00000219476.3:p.His1620Tyr
ENST00000350773.8:c.4789C>T	ENSP00000344383.4:p.His1597Tyr
ENST00000382538.10:c.4513C>T	ENSP00000371978.6:p.His1505Tyr
ENST00000401874.6:c.4657C>T	ENSP00000384468.2:p.His1553Tyr
ENST00000439117.6:c.*4025C>T	ENSP00000406980.2:n.*4025C>T
ENST00000439673.6:c.4549C>T	ENSP00000399232.2:p.His1517Tyr
ENST00000497886.5:n.2608-27C>T
ENST00000568454.5:c.4690C>T	ENSP00000454487.1:p.His1564Tyr
ENST00000569110.1:c.1040C>T
ENST00000569930.1:n.1973C>T
NM_000548.3:c.4858C>T , LRG_487t1:c.4858C>T	NP_000539.2:p.His1620Tyr
NM_001077183.1:c.4657C>T	NP_001070651.1:p.His1553Tyr
NM_001114382.1:c.4789C>T	NP_001107854.1:p.His1597Tyr
XM_005255529.3:c.4729C>T	XP_005255586.2:p.His1577Tyr
XM_005255531.3:c.4660C>T	XP_005255588.2:p.His1554Tyr
XM_011522636.1:c.4912C>T	XP_011520938.1:p.His1638Tyr
XM_011522637.1:c.4909C>T	XP_011520939.1:p.His1637Tyr
XM_011522638.1:c.4801C>T	XP_011520940.1:p.His1601Tyr
XM_011522639.1:c.4783C>T	XP_011520941.1:p.His1595Tyr
XM_011522640.1:c.4780C>T	XP_011520942.1:p.His1594Tyr
XM_011522641.1:c.4549C>T	XP_011520943.1:p.His1517Tyr
NM_000548.4:c.4858C>T	NP_000539.2:p.His1620Tyr
NM_001077183.2:c.4657C>T	NP_001070651.1:p.His1553Tyr
NM_001114382.2:c.4789C>T	NP_001107854.1:p.His1597Tyr
NM_001318827.1:c.4549C>T	NP_001305756.1:p.His1517Tyr
NM_001318829.1:c.4513C>T	NP_001305758.1:p.His1505Tyr
NM_001318831.1:c.4126C>T	NP_001305760.1:p.His1376Tyr
NM_001318832.1:c.4690C>T	NP_001305761.1:p.His1564Tyr
NM_001363528.1:c.4660C>T	NP_001350457.1:p.His1554Tyr
NM_021055.2:c.4729C>T	NP_066399.2:p.His1577Tyr
XM_005255531.4:c.4660C>T	XP_005255588.2:p.His1554Tyr
XM_011522636.2:c.4912C>T	XP_011520938.1:p.His1638Tyr
XM_011522637.2:c.4909C>T	XP_011520939.1:p.His1637Tyr
XM_011522638.2:c.5074C>T	XP_011520940.2:p.His1692Tyr
XM_011522639.2:c.4783C>T	XP_011520941.1:p.His1595Tyr
XM_011522640.2:c.4780C>T	XP_011520942.1:p.His1594Tyr
XM_017023615.1:c.4855C>T	XP_016879104.1:p.His1619Tyr
XM_017023616.1:c.4726C>T	XP_016879105.1:p.His1576Tyr
XM_017023617.1:c.4822C>T	XP_016879106.1:p.His1608Tyr
XM_017023618.1:c.3568C>T	XP_016879107.1:p.His1190Tyr
XM_024450413.1:c.4657C>T	XP_024306181.1:p.His1553Tyr
NM_000548.5:c.4858C>T MANE Select	NP_000539.2:p.His1620Tyr
NM_001370404.1:c.4726C>T	NP_001357333.1:p.His1576Tyr
NM_001370405.1:c.4729C>T	NP_001357334.1:p.His1577Tyr
NM_001077183.3:c.4657C>T	NP_001070651.1:p.His1553Tyr
NM_001114382.3:c.4789C>T	NP_001107854.1:p.His1597Tyr
NM_001318827.2:c.4549C>T	NP_001305756.1:p.His1517Tyr
NM_001318829.2:c.4513C>T	NP_001305758.1:p.His1505Tyr
NM_001318831.2:c.4126C>T	NP_001305760.1:p.His1376Tyr
NM_001318832.2:c.4690C>T	NP_001305761.1:p.His1564Tyr
NM_001363528.2:c.4660C>T	NP_001350457.1:p.His1554Tyr
NM_021055.3:c.4729C>T	NP_066399.2:p.His1577Tyr