Canonical Allele Identifier: CA394313843

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138230G>T (hg19) ; chr16:g.2088229G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088229G>T , CM000678.2:g.2088229G>T	GRCh38
NC_000016.9:g.2138230G>T , CM000678.1:g.2138230G>T	GRCh37
NC_000016.8:g.2078231G>T	NCBI36
NG_005895.1:g.43924G>T , LRG_487:g.43924G>T
NG_008617.1:g.54992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3512G>T	ENSP00000455997.2:n.*3512G>T
ENST00000642206.2:c.5010G>T	ENSP00000495146.2:p.Met1670Ile
ENST00000642365.2:c.5160G>T	ENSP00000495459.2:p.Met1720Ile
ENST00000644417.2:c.*5676G>T	ENSP00000493912.2:n.*5676G>T
ENST00000646464.2:c.*7912G>T	ENSP00000496610.2:n.*7912G>T
ENST00000219476.9:c.5163G>T MANE Select	ENSP00000219476.3:p.Met1721Ile
ENST00000350773.9:c.5094G>T	ENSP00000344383.4:p.Met1698Ile
ENST00000401874.7:c.4962G>T	ENSP00000384468.2:p.Met1654Ile
ENST00000568454.6:c.4995G>T	ENSP00000454487.1:p.Met1665Ile
ENST00000569110.2:c.1386G>T
ENST00000569930.2:n.3045G>T
ENST00000642365.1:c.3817G>T
ENST00000642561.1:c.5032-10G>T	ENSP00000495099.1:n.5032-10G>T
ENST00000642791.1:n.760G>T
ENST00000642797.1:c.4965G>T	ENSP00000493846.1:p.Met1655Ile
ENST00000642936.1:c.5031G>T	ENSP00000494514.1:p.Met1677Ile
ENST00000643088.1:c.4956G>T	ENSP00000494747.1:p.Met1652Ile
ENST00000643426.1:n.2811G>T
ENST00000643946.1:c.5088G>T	ENSP00000495927.1:p.Met1696Ile
ENST00000644043.1:c.5034G>T	ENSP00000496262.1:p.Met1678Ile
ENST00000644329.1:c.5049G>T	ENSP00000496611.1:p.Met1683Ile
ENST00000644335.1:c.4959G>T	ENSP00000496317.1:p.Met1653Ile
ENST00000644399.1:c.5084G>T
ENST00000645024.1:n.3247G>T
ENST00000646388.1:c.5157G>T	ENSP00000495921.1:p.Met1719Ile
ENST00000646634.1:n.3978G>T
ENST00000646674.1:n.2415G>T
ENST00000647042.1:n.2386G>T
ENST00000647180.1:n.2276G>T
ENST00000219476.7:c.5163G>T	ENSP00000219476.3:p.Met1721Ile
ENST00000350773.8:c.5094G>T	ENSP00000344383.4:p.Met1698Ile
ENST00000382538.10:c.4818G>T	ENSP00000371978.6:p.Met1606Ile
ENST00000401874.6:c.4962G>T	ENSP00000384468.2:p.Met1654Ile
ENST00000439117.6:c.*4330G>T	ENSP00000406980.2:n.*4330G>T
ENST00000439673.6:c.4854G>T	ENSP00000399232.2:p.Met1618Ile
ENST00000497886.5:n.2886G>T
ENST00000568454.5:c.4995G>T	ENSP00000454487.1:p.Met1665Ile
ENST00000569110.1:c.1345G>T
ENST00000569930.1:n.2278G>T
NM_000548.3:c.5163G>T , LRG_487t1:c.5163G>T	NP_000539.2:p.Met1721Ile
NM_001077183.1:c.4962G>T	NP_001070651.1:p.Met1654Ile
NM_001114382.1:c.5094G>T	NP_001107854.1:p.Met1698Ile
XM_005255529.3:c.5034G>T	XP_005255586.2:p.Met1678Ile
XM_005255531.3:c.4965G>T	XP_005255588.2:p.Met1655Ile
XM_011522636.1:c.5217G>T	XP_011520938.1:p.Met1739Ile
XM_011522637.1:c.5214G>T	XP_011520939.1:p.Met1738Ile
XM_011522638.1:c.5106G>T	XP_011520940.1:p.Met1702Ile
XM_011522639.1:c.5088G>T	XP_011520941.1:p.Met1696Ile
XM_011522640.1:c.5085G>T	XP_011520942.1:p.Met1695Ile
XM_011522641.1:c.4854G>T	XP_011520943.1:p.Met1618Ile
NM_000548.4:c.5163G>T	NP_000539.2:p.Met1721Ile
NM_001077183.2:c.4962G>T	NP_001070651.1:p.Met1654Ile
NM_001114382.2:c.5094G>T	NP_001107854.1:p.Met1698Ile
NM_001318827.1:c.4854G>T	NP_001305756.1:p.Met1618Ile
NM_001318829.1:c.4818G>T	NP_001305758.1:p.Met1606Ile
NM_001318831.1:c.4431G>T	NP_001305760.1:p.Met1477Ile
NM_001318832.1:c.4995G>T	NP_001305761.1:p.Met1665Ile
NM_001363528.1:c.4965G>T	NP_001350457.1:p.Met1655Ile
NM_021055.2:c.5034G>T	NP_066399.2:p.Met1678Ile
XM_005255531.4:c.4965G>T	XP_005255588.2:p.Met1655Ile
XM_011522636.2:c.5217G>T	XP_011520938.1:p.Met1739Ile
XM_011522637.2:c.5214G>T	XP_011520939.1:p.Met1738Ile
XM_011522638.2:c.5379G>T	XP_011520940.2:p.Met1793Ile
XM_011522639.2:c.5088G>T	XP_011520941.1:p.Met1696Ile
XM_011522640.2:c.5085G>T	XP_011520942.1:p.Met1695Ile
XM_017023615.1:c.5160G>T	XP_016879104.1:p.Met1720Ile
XM_017023616.1:c.5031G>T	XP_016879105.1:p.Met1677Ile
XM_017023617.1:c.5127G>T	XP_016879106.1:p.Met1709Ile
XM_017023618.1:c.3873G>T	XP_016879107.1:p.Met1291Ile
XM_024450413.1:c.5049G>T	XP_024306181.1:p.Met1683Ile
NM_000548.5:c.5163G>T MANE Select	NP_000539.2:p.Met1721Ile
NM_001370404.1:c.5031G>T	NP_001357333.1:p.Met1677Ile
NM_001370405.1:c.5032-10G>T	NP_001357334.1:n.5032-10G>T
NM_001077183.3:c.4962G>T	NP_001070651.1:p.Met1654Ile
NM_001114382.3:c.5094G>T	NP_001107854.1:p.Met1698Ile
NM_001318827.2:c.4854G>T	NP_001305756.1:p.Met1618Ile
NM_001318829.2:c.4818G>T	NP_001305758.1:p.Met1606Ile
NM_001318831.2:c.4431G>T	NP_001305760.1:p.Met1477Ile
NM_001318832.2:c.4995G>T	NP_001305761.1:p.Met1665Ile
NM_001363528.2:c.4965G>T	NP_001350457.1:p.Met1655Ile
NM_021055.3:c.5034G>T	NP_066399.2:p.Met1678Ile