Canonical Allele Identifier: CA493043687

Gene: TSC2

Linked Data

• ClinVar Variation Id: 825628
• ClinVar RCV Id: RCV002552377
• dbSNP Id: rs1596463459
• MyVariant Identifiers: chr16:g.2138491G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088490G>A , CM000678.2:g.2088490G>A	GRCh38
NC_000016.9:g.2138491G>A , CM000678.1:g.2138491G>A	GRCh37
NC_000016.8:g.2078492G>A	NCBI36
NG_005895.1:g.44185G>A , LRG_487:g.44185G>A
NG_008617.1:g.54731C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3653G>A	ENSP00000455997.2:n.*3653G>A
ENST00000642206.2:c.5151G>A	ENSP00000495146.2:p.Val1717=
ENST00000642365.2:c.5301G>A	ENSP00000495459.2:p.Val1767=
ENST00000644417.2:c.*5817G>A	ENSP00000493912.2:n.*5817G>A
ENST00000646464.2:c.*8053G>A	ENSP00000496610.2:n.*8053G>A
ENST00000219476.9:c.5304G>A MANE Select	ENSP00000219476.3:p.Val1768=
ENST00000350773.9:c.5235G>A	ENSP00000344383.4:p.Val1745=
ENST00000401874.7:c.5103G>A	ENSP00000384468.2:p.Val1701=
ENST00000568454.6:c.5136G>A	ENSP00000454487.1:p.Val1712=
ENST00000569110.2:c.1527G>A
ENST00000569930.2:n.3186G>A
ENST00000642365.1:c.3958G>A
ENST00000642561.1:c.5163G>A	ENSP00000495099.1:p.Val1721=
ENST00000642791.1:n.901G>A
ENST00000642797.1:c.5106G>A	ENSP00000493846.1:p.Val1702=
ENST00000642936.1:c.5172G>A	ENSP00000494514.1:p.Val1724=
ENST00000643088.1:c.5097G>A	ENSP00000494747.1:p.Val1699=
ENST00000643426.1:n.2952G>A
ENST00000643946.1:c.5229G>A	ENSP00000495927.1:p.Val1743=
ENST00000644043.1:c.5175G>A	ENSP00000496262.1:p.Val1725=
ENST00000644329.1:c.5190G>A	ENSP00000496611.1:p.Val1730=
ENST00000644335.1:c.5100G>A	ENSP00000496317.1:p.Val1700=
ENST00000644399.1:c.5225G>A
ENST00000645024.1:n.3388G>A
ENST00000646388.1:c.5298G>A	ENSP00000495921.1:p.Val1766=
ENST00000646634.1:n.4119G>A
ENST00000646674.1:n.2556G>A
ENST00000647042.1:n.2527G>A
ENST00000647180.1:n.2417G>A
ENST00000219476.7:c.5304G>A	ENSP00000219476.3:p.Val1768=
ENST00000350773.8:c.5235G>A	ENSP00000344383.4:p.Val1745=
ENST00000382538.10:c.4959G>A	ENSP00000371978.6:p.Val1653=
ENST00000401874.6:c.5103G>A	ENSP00000384468.2:p.Val1701=
ENST00000439117.6:c.*4471G>A	ENSP00000406980.2:n.*4471G>A
ENST00000439673.6:c.4995G>A	ENSP00000399232.2:p.Val1665=
ENST00000497886.5:n.3027G>A
ENST00000568454.5:c.5136G>A	ENSP00000454487.1:p.Val1712=
ENST00000569110.1:c.1486G>A
ENST00000569930.1:n.2419G>A
NM_000548.3:c.5304G>A , LRG_487t1:c.5304G>A	NP_000539.2:p.Val1768=
NM_001077183.1:c.5103G>A	NP_001070651.1:p.Val1701=
NM_001114382.1:c.5235G>A	NP_001107854.1:p.Val1745=
XM_005255529.3:c.5175G>A	XP_005255586.2:p.Val1725=
XM_005255531.3:c.5106G>A	XP_005255588.2:p.Val1702=
XM_011522636.1:c.5358G>A	XP_011520938.1:p.Val1786=
XM_011522637.1:c.5355G>A	XP_011520939.1:p.Val1785=
XM_011522638.1:c.5247G>A	XP_011520940.1:p.Val1749=
XM_011522639.1:c.5229G>A	XP_011520941.1:p.Val1743=
XM_011522640.1:c.5226G>A	XP_011520942.1:p.Val1742=
XM_011522641.1:c.4995G>A	XP_011520943.1:p.Val1665=
NM_000548.4:c.5304G>A	NP_000539.2:p.Val1768=
NM_001077183.2:c.5103G>A	NP_001070651.1:p.Val1701=
NM_001114382.2:c.5235G>A	NP_001107854.1:p.Val1745=
NM_001318827.1:c.4995G>A	NP_001305756.1:p.Val1665=
NM_001318829.1:c.4959G>A	NP_001305758.1:p.Val1653=
NM_001318831.1:c.4572G>A	NP_001305760.1:p.Val1524=
NM_001318832.1:c.5136G>A	NP_001305761.1:p.Val1712=
NM_001363528.1:c.5106G>A	NP_001350457.1:p.Val1702=
NM_021055.2:c.5175G>A	NP_066399.2:p.Val1725=
XM_005255531.4:c.5106G>A	XP_005255588.2:p.Val1702=
XM_011522636.2:c.5358G>A	XP_011520938.1:p.Val1786=
XM_011522637.2:c.5355G>A	XP_011520939.1:p.Val1785=
XM_011522638.2:c.5520G>A	XP_011520940.2:p.Val1840=
XM_011522639.2:c.5229G>A	XP_011520941.1:p.Val1743=
XM_011522640.2:c.5226G>A	XP_011520942.1:p.Val1742=
XM_017023615.1:c.5301G>A	XP_016879104.1:p.Val1767=
XM_017023616.1:c.5172G>A	XP_016879105.1:p.Val1724=
XM_017023617.1:c.5268G>A	XP_016879106.1:p.Val1756=
XM_017023618.1:c.4014G>A	XP_016879107.1:p.Val1338=
XM_024450413.1:c.5190G>A	XP_024306181.1:p.Val1730=
NM_000548.5:c.5304G>A MANE Select	NP_000539.2:p.Val1768=
NM_001370404.1:c.5172G>A	NP_001357333.1:p.Val1724=
NM_001370405.1:c.5163G>A	NP_001357334.1:p.Val1721=
NM_001077183.3:c.5103G>A	NP_001070651.1:p.Val1701=
NM_001114382.3:c.5235G>A	NP_001107854.1:p.Val1745=
NM_001318827.2:c.4995G>A	NP_001305756.1:p.Val1665=
NM_001318829.2:c.4959G>A	NP_001305758.1:p.Val1653=
NM_001318831.2:c.4572G>A	NP_001305760.1:p.Val1524=
NM_001318832.2:c.5136G>A	NP_001305761.1:p.Val1712=
NM_001363528.2:c.5106G>A	NP_001350457.1:p.Val1702=
NM_021055.3:c.5175G>A	NP_066399.2:p.Val1725=