Canonical Allele Identifier: CA022509

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49374
• ClinVar RCV Id: RCV000042634 ; RCV003114223
• dbSNP Id: rs45486402
• gnomAD v4: 16-2088605-G-T
• MyVariant Identifiers: chr16:g.2138606G>T (hg19) ; chr16:g.2088605G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088605G>T , CM000678.2:g.2088605G>T	GRCh38
NC_000016.9:g.2138606G>T , CM000678.1:g.2138606G>T	GRCh37
NC_000016.8:g.2078607G>T	NCBI36
NG_005895.1:g.44300G>T , LRG_487:g.44300G>T
NG_008617.1:g.54616C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3768G>T	ENSP00000455997.2:n.*3768G>T
ENST00000642206.2:c.5266G>T	ENSP00000495146.2:p.Val1756Leu
ENST00000642365.2:c.5416G>T	ENSP00000495459.2:p.Val1806Leu
ENST00000644417.2:c.*5932G>T	ENSP00000493912.2:n.*5932G>T
ENST00000646464.2:c.*8168G>T	ENSP00000496610.2:n.*8168G>T
ENST00000219476.9:c.5419G>T MANE Select	ENSP00000219476.3:p.Val1807Leu
ENST00000350773.9:c.5350G>T	ENSP00000344383.4:p.Val1784Leu
ENST00000401874.7:c.5218G>T	ENSP00000384468.2:p.Val1740Leu
ENST00000568454.6:c.5251G>T	ENSP00000454487.1:p.Val1751Leu
ENST00000569110.2:c.1642G>T
ENST00000569930.2:n.3301G>T
ENST00000642365.1:c.4073G>T
ENST00000642561.1:c.5278G>T	ENSP00000495099.1:p.Val1760Leu
ENST00000642791.1:n.1016G>T
ENST00000642797.1:c.5221G>T	ENSP00000493846.1:p.Val1741Leu
ENST00000642936.1:c.5287G>T	ENSP00000494514.1:p.Val1763Leu
ENST00000643088.1:c.5212G>T	ENSP00000494747.1:p.Val1738Leu
ENST00000643426.1:n.3067G>T
ENST00000643946.1:c.5344G>T	ENSP00000495927.1:p.Val1782Leu
ENST00000644043.1:c.5290G>T	ENSP00000496262.1:p.Val1764Leu
ENST00000644329.1:c.5305G>T	ENSP00000496611.1:p.Val1769Leu
ENST00000644335.1:c.5215G>T	ENSP00000496317.1:p.Val1739Leu
ENST00000644399.1:c.5340G>T
ENST00000646388.1:c.5413G>T	ENSP00000495921.1:p.Val1805Leu
ENST00000646634.1:n.4234G>T
ENST00000646674.1:n.2671G>T
ENST00000647042.1:n.2642G>T
ENST00000647180.1:n.2532G>T
ENST00000219476.7:c.5419G>T	ENSP00000219476.3:p.Val1807Leu
ENST00000350773.8:c.5350G>T	ENSP00000344383.4:p.Val1784Leu
ENST00000382538.10:c.5074G>T	ENSP00000371978.6:p.Val1692Leu
ENST00000401874.6:c.5218G>T	ENSP00000384468.2:p.Val1740Leu
ENST00000439117.6:c.*4586G>T	ENSP00000406980.2:n.*4586G>T
ENST00000439673.6:c.5110G>T	ENSP00000399232.2:p.Val1704Leu
ENST00000497886.5:n.3142G>T
ENST00000568454.5:c.5251G>T	ENSP00000454487.1:p.Val1751Leu
ENST00000569110.1:c.1601G>T
ENST00000569930.1:n.2534G>T
NM_000548.3:c.5419G>T , LRG_487t1:c.5419G>T	NP_000539.2:p.Val1807Leu
NM_001077183.1:c.5218G>T	NP_001070651.1:p.Val1740Leu
NM_001114382.1:c.5350G>T	NP_001107854.1:p.Val1784Leu
XM_005255529.3:c.5290G>T	XP_005255586.2:p.Val1764Leu
XM_005255531.3:c.5221G>T	XP_005255588.2:p.Val1741Leu
XM_011522636.1:c.5473G>T	XP_011520938.1:p.Val1825Leu
XM_011522637.1:c.5470G>T	XP_011520939.1:p.Val1824Leu
XM_011522638.1:c.5362G>T	XP_011520940.1:p.Val1788Leu
XM_011522639.1:c.5344G>T	XP_011520941.1:p.Val1782Leu
XM_011522640.1:c.5341G>T	XP_011520942.1:p.Val1781Leu
XM_011522641.1:c.5110G>T	XP_011520943.1:p.Val1704Leu
NM_000548.4:c.5419G>T	NP_000539.2:p.Val1807Leu
NM_001077183.2:c.5218G>T	NP_001070651.1:p.Val1740Leu
NM_001114382.2:c.5350G>T	NP_001107854.1:p.Val1784Leu
NM_001318827.1:c.5110G>T	NP_001305756.1:p.Val1704Leu
NM_001318829.1:c.5074G>T	NP_001305758.1:p.Val1692Leu
NM_001318831.1:c.4687G>T	NP_001305760.1:p.Val1563Leu
NM_001318832.1:c.5251G>T	NP_001305761.1:p.Val1751Leu
NM_001363528.1:c.5221G>T	NP_001350457.1:p.Val1741Leu
NM_021055.2:c.5290G>T	NP_066399.2:p.Val1764Leu
XM_005255531.4:c.5221G>T	XP_005255588.2:p.Val1741Leu
XM_011522636.2:c.5473G>T	XP_011520938.1:p.Val1825Leu
XM_011522637.2:c.5470G>T	XP_011520939.1:p.Val1824Leu
XM_011522638.2:c.5635G>T	XP_011520940.2:p.Val1879Leu
XM_011522639.2:c.5344G>T	XP_011520941.1:p.Val1782Leu
XM_011522640.2:c.5341G>T	XP_011520942.1:p.Val1781Leu
XM_017023615.1:c.5416G>T	XP_016879104.1:p.Val1806Leu
XM_017023616.1:c.5287G>T	XP_016879105.1:p.Val1763Leu
XM_017023617.1:c.5383G>T	XP_016879106.1:p.Val1795Leu
XM_017023618.1:c.4129G>T	XP_016879107.1:p.Val1377Leu
XM_024450413.1:c.5305G>T	XP_024306181.1:p.Val1769Leu
NM_000548.5:c.5419G>T MANE Select	NP_000539.2:p.Val1807Leu
NM_001370404.1:c.5287G>T	NP_001357333.1:p.Val1763Leu
NM_001370405.1:c.5278G>T	NP_001357334.1:p.Val1760Leu
NM_001077183.3:c.5218G>T	NP_001070651.1:p.Val1740Leu
NM_001114382.3:c.5350G>T	NP_001107854.1:p.Val1784Leu
NM_001318827.2:c.5110G>T	NP_001305756.1:p.Val1704Leu
NM_001318829.2:c.5074G>T	NP_001305758.1:p.Val1692Leu
NM_001318831.2:c.4687G>T	NP_001305760.1:p.Val1563Leu
NM_001318832.2:c.5251G>T	NP_001305761.1:p.Val1751Leu
NM_001363528.2:c.5221G>T	NP_001350457.1:p.Val1741Leu
NM_021055.3:c.5290G>T	NP_066399.2:p.Val1764Leu