Canonical Allele Identifier: CA021630

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49344
• ClinVar RCV Id: RCV000042604 ; RCV000553605
• dbSNP Id: rs137854882
• MyVariant Identifiers: chr16:g.2137942G>T (hg19) ; chr16:g.2087941G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087941G>T , CM000678.2:g.2087941G>T	GRCh38
NC_000016.9:g.2137942G>T , CM000678.1:g.2137942G>T	GRCh37
NC_000016.8:g.2077943G>T	NCBI36
NG_005895.1:g.43636G>T , LRG_487:g.43636G>T
NG_008617.1:g.55280C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3417G>T	ENSP00000455997.2:n.*3417G>T
ENST00000642206.2:c.4915G>T	ENSP00000495146.2:p.Asp1639Tyr
ENST00000642365.2:c.5065G>T	ENSP00000495459.2:p.Asp1689Tyr
ENST00000644417.2:c.*5581G>T	ENSP00000493912.2:n.*5581G>T
ENST00000646464.2:c.*7817G>T	ENSP00000496610.2:n.*7817G>T
ENST00000219476.9:c.5068G>T MANE Select	ENSP00000219476.3:p.Asp1690Tyr
ENST00000350773.9:c.4999G>T	ENSP00000344383.4:p.Asp1667Tyr
ENST00000401874.7:c.4867G>T	ENSP00000384468.2:p.Asp1623Tyr
ENST00000568454.6:c.4900G>T	ENSP00000454487.1:p.Asp1634Tyr
ENST00000569110.2:c.1291G>T
ENST00000569930.2:n.2950G>T
ENST00000642365.1:c.3722G>T
ENST00000642561.1:c.4939G>T	ENSP00000495099.1:p.Asp1647Tyr
ENST00000642791.1:n.665G>T
ENST00000642797.1:c.4870G>T	ENSP00000493846.1:p.Asp1624Tyr
ENST00000642936.1:c.4936G>T	ENSP00000494514.1:p.Asp1646Tyr
ENST00000643088.1:c.4861G>T	ENSP00000494747.1:p.Asp1621Tyr
ENST00000643177.1:n.1082G>T
ENST00000643426.1:n.2716G>T
ENST00000643946.1:c.4993G>T	ENSP00000495927.1:p.Asp1665Tyr
ENST00000644043.1:c.4939G>T	ENSP00000496262.1:p.Asp1647Tyr
ENST00000644278.1:n.550G>T
ENST00000644329.1:c.4867G>T	ENSP00000496611.1:p.Asp1623Tyr
ENST00000644335.1:c.4864G>T	ENSP00000496317.1:p.Asp1622Tyr
ENST00000644399.1:c.4989G>T
ENST00000645024.1:n.3152G>T
ENST00000646388.1:c.5062G>T	ENSP00000495921.1:p.Asp1688Tyr
ENST00000646634.1:n.3883G>T
ENST00000646674.1:n.2320G>T
ENST00000647042.1:n.2291G>T
ENST00000647180.1:n.2181G>T
ENST00000219476.7:c.5068G>T	ENSP00000219476.3:p.Asp1690Tyr
ENST00000350773.8:c.4999G>T	ENSP00000344383.4:p.Asp1667Tyr
ENST00000382538.10:c.4723G>T	ENSP00000371978.6:p.Asp1575Tyr
ENST00000401874.6:c.4867G>T	ENSP00000384468.2:p.Asp1623Tyr
ENST00000439117.6:c.*4235G>T	ENSP00000406980.2:n.*4235G>T
ENST00000439673.6:c.4759G>T	ENSP00000399232.2:p.Asp1587Tyr
ENST00000497886.5:n.2791G>T
ENST00000568454.5:c.4900G>T	ENSP00000454487.1:p.Asp1634Tyr
ENST00000569110.1:c.1250G>T
ENST00000569930.1:n.2183G>T
NM_000548.3:c.5068G>T , LRG_487t1:c.5068G>T	NP_000539.2:p.Asp1690Tyr
NM_001077183.1:c.4867G>T	NP_001070651.1:p.Asp1623Tyr
NM_001114382.1:c.4999G>T	NP_001107854.1:p.Asp1667Tyr
XM_005255529.3:c.4939G>T	XP_005255586.2:p.Asp1647Tyr
XM_005255531.3:c.4870G>T	XP_005255588.2:p.Asp1624Tyr
XM_011522636.1:c.5122G>T	XP_011520938.1:p.Asp1708Tyr
XM_011522637.1:c.5119G>T	XP_011520939.1:p.Asp1707Tyr
XM_011522638.1:c.5011G>T	XP_011520940.1:p.Asp1671Tyr
XM_011522639.1:c.4993G>T	XP_011520941.1:p.Asp1665Tyr
XM_011522640.1:c.4990G>T	XP_011520942.1:p.Asp1664Tyr
XM_011522641.1:c.4759G>T	XP_011520943.1:p.Asp1587Tyr
NM_000548.4:c.5068G>T	NP_000539.2:p.Asp1690Tyr
NM_001077183.2:c.4867G>T	NP_001070651.1:p.Asp1623Tyr
NM_001114382.2:c.4999G>T	NP_001107854.1:p.Asp1667Tyr
NM_001318827.1:c.4759G>T	NP_001305756.1:p.Asp1587Tyr
NM_001318829.1:c.4723G>T	NP_001305758.1:p.Asp1575Tyr
NM_001318831.1:c.4336G>T	NP_001305760.1:p.Asp1446Tyr
NM_001318832.1:c.4900G>T	NP_001305761.1:p.Asp1634Tyr
NM_001363528.1:c.4870G>T	NP_001350457.1:p.Asp1624Tyr
NM_021055.2:c.4939G>T	NP_066399.2:p.Asp1647Tyr
XM_005255531.4:c.4870G>T	XP_005255588.2:p.Asp1624Tyr
XM_011522636.2:c.5122G>T	XP_011520938.1:p.Asp1708Tyr
XM_011522637.2:c.5119G>T	XP_011520939.1:p.Asp1707Tyr
XM_011522638.2:c.5284G>T	XP_011520940.2:p.Asp1762Tyr
XM_011522639.2:c.4993G>T	XP_011520941.1:p.Asp1665Tyr
XM_011522640.2:c.4990G>T	XP_011520942.1:p.Asp1664Tyr
XM_017023615.1:c.5065G>T	XP_016879104.1:p.Asp1689Tyr
XM_017023616.1:c.4936G>T	XP_016879105.1:p.Asp1646Tyr
XM_017023617.1:c.5032G>T	XP_016879106.1:p.Asp1678Tyr
XM_017023618.1:c.3778G>T	XP_016879107.1:p.Asp1260Tyr
XM_024450413.1:c.4867G>T	XP_024306181.1:p.Asp1623Tyr
NM_000548.5:c.5068G>T MANE Select	NP_000539.2:p.Asp1690Tyr
NM_001370404.1:c.4936G>T	NP_001357333.1:p.Asp1646Tyr
NM_001370405.1:c.4939G>T	NP_001357334.1:p.Asp1647Tyr
NM_001077183.3:c.4867G>T	NP_001070651.1:p.Asp1623Tyr
NM_001114382.3:c.4999G>T	NP_001107854.1:p.Asp1667Tyr
NM_001318827.2:c.4759G>T	NP_001305756.1:p.Asp1587Tyr
NM_001318829.2:c.4723G>T	NP_001305758.1:p.Asp1575Tyr
NM_001318831.2:c.4336G>T	NP_001305760.1:p.Asp1446Tyr
NM_001318832.2:c.4900G>T	NP_001305761.1:p.Asp1634Tyr
NM_001363528.2:c.4870G>T	NP_001350457.1:p.Asp1624Tyr
NM_021055.3:c.4939G>T	NP_066399.2:p.Asp1647Tyr