Canonical Allele Identifier: CA022183

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65333
• ClinVar RCV Id: RCV000055557
• dbSNP Id: rs397515245
• MyVariant Identifiers: chr16:g.2138291_2138308del (hg19) ; chr16:g.2088290_2088307del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088290_2088307del , CM000678.2:g.2088290_2088307del	GRCh38
NC_000016.9:g.2138291_2138308del , CM000678.1:g.2138291_2138308del	GRCh37
NC_000016.8:g.2078292_2078309del	NCBI36
NG_005895.1:g.43985_44002del , LRG_487:g.43985_44002del
NG_008617.1:g.54914_54931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3573_*3590del	ENSP00000455997.2:n.*3573_*3590del
ENST00000642206.2:c.5071_5088del	ENSP00000495146.2:p.Ala1691_Ile1696del
ENST00000642365.2:c.5221_5238del	ENSP00000495459.2:p.Ala1741_Ile1746del
ENST00000644417.2:c.*5737_*5754del	ENSP00000493912.2:n.*5737_*5754del
ENST00000646464.2:c.*7973_*7990del	ENSP00000496610.2:n.*7973_*7990del
ENST00000219476.9:c.5224_5241del MANE Select	ENSP00000219476.3:p.Ala1742_Ile1747del
ENST00000350773.9:c.5155_5172del	ENSP00000344383.4:p.Ala1719_Ile1724del
ENST00000401874.7:c.5023_5040del	ENSP00000384468.2:p.Ala1675_Ile1680del
ENST00000568454.6:c.5056_5073del	ENSP00000454487.1:p.Ala1686_Ile1691del
ENST00000569110.2:c.1447_1464del
ENST00000569930.2:n.3106_3123del
ENST00000642365.1:c.3878_3895del
ENST00000642561.1:c.5083_5100del	ENSP00000495099.1:p.Ala1695_Ile1700del
ENST00000642791.1:n.821_838del
ENST00000642797.1:c.5026_5043del	ENSP00000493846.1:p.Ala1676_Ile1681del
ENST00000642936.1:c.5092_5109del	ENSP00000494514.1:p.Ala1698_Ile1703del
ENST00000643088.1:c.5017_5034del	ENSP00000494747.1:p.Ala1673_Ile1678del
ENST00000643426.1:n.2872_2889del
ENST00000643946.1:c.5149_5166del	ENSP00000495927.1:p.Ala1717_Ile1722del
ENST00000644043.1:c.5095_5112del	ENSP00000496262.1:p.Ala1699_Ile1704del
ENST00000644329.1:c.5110_5127del	ENSP00000496611.1:p.Ala1704_Ile1709del
ENST00000644335.1:c.5020_5037del	ENSP00000496317.1:p.Ala1674_Ile1679del
ENST00000644399.1:c.5145_5162del
ENST00000645024.1:n.3308_3325del
ENST00000646388.1:c.5218_5235del	ENSP00000495921.1:p.Ala1740_Ile1745del
ENST00000646634.1:n.4039_4056del
ENST00000646674.1:n.2476_2493del
ENST00000647042.1:n.2447_2464del
ENST00000647180.1:n.2337_2354del
ENST00000219476.7:c.5224_5241del	ENSP00000219476.3:p.Ala1742_Ile1747del
ENST00000350773.8:c.5155_5172del	ENSP00000344383.4:p.Ala1719_Ile1724del
ENST00000382538.10:c.4879_4896del	ENSP00000371978.6:p.Ala1627_Ile1632del
ENST00000401874.6:c.5023_5040del	ENSP00000384468.2:p.Ala1675_Ile1680del
ENST00000439117.6:c.*4391_*4408del	ENSP00000406980.2:n.*4391_*4408del
ENST00000439673.6:c.4915_4932del	ENSP00000399232.2:p.Ala1639_Ile1644del
ENST00000497886.5:n.2947_2964del
ENST00000568454.5:c.5056_5073del	ENSP00000454487.1:p.Ala1686_Ile1691del
ENST00000569110.1:c.1406_1423del
ENST00000569930.1:n.2339_2356del
NM_000548.3:c.5224_5241del , LRG_487t1:c.5224_5241del	NP_000539.2:p.Ala1742_Ile1747del
NM_001077183.1:c.5023_5040del	NP_001070651.1:p.Ala1675_Ile1680del
NM_001114382.1:c.5155_5172del	NP_001107854.1:p.Ala1719_Ile1724del
XM_005255529.3:c.5095_5112del	XP_005255586.2:p.Ala1699_Ile1704del
XM_005255531.3:c.5026_5043del	XP_005255588.2:p.Ala1676_Ile1681del
XM_011522636.1:c.5278_5295del	XP_011520938.1:p.Ala1760_Ile1765del
XM_011522637.1:c.5275_5292del	XP_011520939.1:p.Ala1759_Ile1764del
XM_011522638.1:c.5167_5184del	XP_011520940.1:p.Ala1723_Ile1728del
XM_011522639.1:c.5149_5166del	XP_011520941.1:p.Ala1717_Ile1722del
XM_011522640.1:c.5146_5163del	XP_011520942.1:p.Ala1716_Ile1721del
XM_011522641.1:c.4915_4932del	XP_011520943.1:p.Ala1639_Ile1644del
NM_000548.4:c.5224_5241del	NP_000539.2:p.Ala1742_Ile1747del
NM_001077183.2:c.5023_5040del	NP_001070651.1:p.Ala1675_Ile1680del
NM_001114382.2:c.5155_5172del	NP_001107854.1:p.Ala1719_Ile1724del
NM_001318827.1:c.4915_4932del	NP_001305756.1:p.Ala1639_Ile1644del
NM_001318829.1:c.4879_4896del	NP_001305758.1:p.Ala1627_Ile1632del
NM_001318831.1:c.4492_4509del	NP_001305760.1:p.Ala1498_Ile1503del
NM_001318832.1:c.5056_5073del	NP_001305761.1:p.Ala1686_Ile1691del
NM_001363528.1:c.5026_5043del	NP_001350457.1:p.Ala1676_Ile1681del
NM_021055.2:c.5095_5112del	NP_066399.2:p.Ala1699_Ile1704del
XM_005255531.4:c.5026_5043del	XP_005255588.2:p.Ala1676_Ile1681del
XM_011522636.2:c.5278_5295del	XP_011520938.1:p.Ala1760_Ile1765del
XM_011522637.2:c.5275_5292del	XP_011520939.1:p.Ala1759_Ile1764del
XM_011522638.2:c.5440_5457del	XP_011520940.2:p.Ala1814_Ile1819del
XM_011522639.2:c.5149_5166del	XP_011520941.1:p.Ala1717_Ile1722del
XM_011522640.2:c.5146_5163del	XP_011520942.1:p.Ala1716_Ile1721del
XM_017023615.1:c.5221_5238del	XP_016879104.1:p.Ala1741_Ile1746del
XM_017023616.1:c.5092_5109del	XP_016879105.1:p.Ala1698_Ile1703del
XM_017023617.1:c.5188_5205del	XP_016879106.1:p.Ala1730_Ile1735del
XM_017023618.1:c.3934_3951del	XP_016879107.1:p.Ala1312_Ile1317del
XM_024450413.1:c.5110_5127del	XP_024306181.1:p.Ala1704_Ile1709del
NM_000548.5:c.5224_5241del MANE Select	NP_000539.2:p.Ala1742_Ile1747del
NM_001370404.1:c.5092_5109del	NP_001357333.1:p.Ala1698_Ile1703del
NM_001370405.1:c.5083_5100del	NP_001357334.1:p.Ala1695_Ile1700del
NM_001077183.3:c.5023_5040del	NP_001070651.1:p.Ala1675_Ile1680del
NM_001114382.3:c.5155_5172del	NP_001107854.1:p.Ala1719_Ile1724del
NM_001318827.2:c.4915_4932del	NP_001305756.1:p.Ala1639_Ile1644del
NM_001318829.2:c.4879_4896del	NP_001305758.1:p.Ala1627_Ile1632del
NM_001318831.2:c.4492_4509del	NP_001305760.1:p.Ala1498_Ile1503del
NM_001318832.2:c.5056_5073del	NP_001305761.1:p.Ala1686_Ile1691del
NM_001363528.2:c.5026_5043del	NP_001350457.1:p.Ala1676_Ile1681del
NM_021055.3:c.5095_5112del	NP_066399.2:p.Ala1699_Ile1704del