Canonical Allele Identifier: CA658656652

Gene: TSC2

Linked Data

• ClinVar Variation Id: 486668
• ClinVar RCV Id: RCV000565556
• dbSNP Id: rs1555440518
• MyVariant Identifiers: chr16:g.2138264_2138278del (hg19) ; chr16:g.2088263_2088277del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088263_2088277del , CM000678.2:g.2088263_2088277del	GRCh38
NC_000016.9:g.2138264_2138278del , CM000678.1:g.2138264_2138278del	GRCh37
NC_000016.8:g.2078265_2078279del	NCBI36
NG_005895.1:g.43958_43972del , LRG_487:g.43958_43972del
NG_008617.1:g.54949_54963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3546_*3560del	ENSP00000455997.2:n.*3546_*3560del
ENST00000642206.2:c.5044_5058del	ENSP00000495146.2:p.Thr1682_Pro1686del
ENST00000642365.2:c.5194_5208del	ENSP00000495459.2:p.Thr1732_Pro1736del
ENST00000644417.2:c.*5710_*5724del	ENSP00000493912.2:n.*5710_*5724del
ENST00000646464.2:c.*7946_*7960del	ENSP00000496610.2:n.*7946_*7960del
ENST00000219476.9:c.5197_5211del MANE Select	ENSP00000219476.3:p.Thr1733_Pro1737del
ENST00000350773.9:c.5128_5142del	ENSP00000344383.4:p.Thr1710_Pro1714del
ENST00000401874.7:c.4996_5010del	ENSP00000384468.2:p.Thr1666_Pro1670del
ENST00000568454.6:c.5029_5043del	ENSP00000454487.1:p.Thr1677_Pro1681del
ENST00000569110.2:c.1420_1434del
ENST00000569930.2:n.3079_3093del
ENST00000642365.1:c.3851_3865del
ENST00000642561.1:c.5056_5070del	ENSP00000495099.1:p.Thr1686_Pro1690del
ENST00000642791.1:n.794_808del
ENST00000642797.1:c.4999_5013del	ENSP00000493846.1:p.Thr1667_Pro1671del
ENST00000642936.1:c.5065_5079del	ENSP00000494514.1:p.Thr1689_Pro1693del
ENST00000643088.1:c.4990_5004del	ENSP00000494747.1:p.Thr1664_Pro1668del
ENST00000643426.1:n.2845_2859del
ENST00000643946.1:c.5122_5136del	ENSP00000495927.1:p.Thr1708_Pro1712del
ENST00000644043.1:c.5068_5082del	ENSP00000496262.1:p.Thr1690_Pro1694del
ENST00000644329.1:c.5083_5097del	ENSP00000496611.1:p.Thr1695_Pro1699del
ENST00000644335.1:c.4993_5007del	ENSP00000496317.1:p.Thr1665_Pro1669del
ENST00000644399.1:c.5118_5132del
ENST00000645024.1:n.3281_3295del
ENST00000646388.1:c.5191_5205del	ENSP00000495921.1:p.Thr1731_Pro1735del
ENST00000646634.1:n.4012_4026del
ENST00000646674.1:n.2449_2463del
ENST00000647042.1:n.2420_2434del
ENST00000647180.1:n.2310_2324del
ENST00000219476.7:c.5197_5211del	ENSP00000219476.3:p.Thr1733_Pro1737del
ENST00000350773.8:c.5128_5142del	ENSP00000344383.4:p.Thr1710_Pro1714del
ENST00000382538.10:c.4852_4866del	ENSP00000371978.6:p.Thr1618_Pro1622del
ENST00000401874.6:c.4996_5010del	ENSP00000384468.2:p.Thr1666_Pro1670del
ENST00000439117.6:c.*4364_*4378del	ENSP00000406980.2:n.*4364_*4378del
ENST00000439673.6:c.4888_4902del	ENSP00000399232.2:p.Thr1630_Pro1634del
ENST00000497886.5:n.2920_2934del
ENST00000568454.5:c.5029_5043del	ENSP00000454487.1:p.Thr1677_Pro1681del
ENST00000569110.1:c.1379_1393del
ENST00000569930.1:n.2312_2326del
NM_000548.3:c.5197_5211del , LRG_487t1:c.5197_5211del	NP_000539.2:p.Thr1733_Pro1737del
NM_001077183.1:c.4996_5010del	NP_001070651.1:p.Thr1666_Pro1670del
NM_001114382.1:c.5128_5142del	NP_001107854.1:p.Thr1710_Pro1714del
XM_005255529.3:c.5068_5082del	XP_005255586.2:p.Thr1690_Pro1694del
XM_005255531.3:c.4999_5013del	XP_005255588.2:p.Thr1667_Pro1671del
XM_011522636.1:c.5251_5265del	XP_011520938.1:p.Thr1751_Pro1755del
XM_011522637.1:c.5248_5262del	XP_011520939.1:p.Thr1750_Pro1754del
XM_011522638.1:c.5140_5154del	XP_011520940.1:p.Thr1714_Pro1718del
XM_011522639.1:c.5122_5136del	XP_011520941.1:p.Thr1708_Pro1712del
XM_011522640.1:c.5119_5133del	XP_011520942.1:p.Thr1707_Pro1711del
XM_011522641.1:c.4888_4902del	XP_011520943.1:p.Thr1630_Pro1634del
NM_000548.4:c.5197_5211del	NP_000539.2:p.Thr1733_Pro1737del
NM_001077183.2:c.4996_5010del	NP_001070651.1:p.Thr1666_Pro1670del
NM_001114382.2:c.5128_5142del	NP_001107854.1:p.Thr1710_Pro1714del
NM_001318827.1:c.4888_4902del	NP_001305756.1:p.Thr1630_Pro1634del
NM_001318829.1:c.4852_4866del	NP_001305758.1:p.Thr1618_Pro1622del
NM_001318831.1:c.4465_4479del	NP_001305760.1:p.Thr1489_Pro1493del
NM_001318832.1:c.5029_5043del	NP_001305761.1:p.Thr1677_Pro1681del
NM_001363528.1:c.4999_5013del	NP_001350457.1:p.Thr1667_Pro1671del
NM_021055.2:c.5068_5082del	NP_066399.2:p.Thr1690_Pro1694del
XM_005255531.4:c.4999_5013del	XP_005255588.2:p.Thr1667_Pro1671del
XM_011522636.2:c.5251_5265del	XP_011520938.1:p.Thr1751_Pro1755del
XM_011522637.2:c.5248_5262del	XP_011520939.1:p.Thr1750_Pro1754del
XM_011522638.2:c.5413_5427del	XP_011520940.2:p.Thr1805_Pro1809del
XM_011522639.2:c.5122_5136del	XP_011520941.1:p.Thr1708_Pro1712del
XM_011522640.2:c.5119_5133del	XP_011520942.1:p.Thr1707_Pro1711del
XM_017023615.1:c.5194_5208del	XP_016879104.1:p.Thr1732_Pro1736del
XM_017023616.1:c.5065_5079del	XP_016879105.1:p.Thr1689_Pro1693del
XM_017023617.1:c.5161_5175del	XP_016879106.1:p.Thr1721_Pro1725del
XM_017023618.1:c.3907_3921del	XP_016879107.1:p.Thr1303_Pro1307del
XM_024450413.1:c.5083_5097del	XP_024306181.1:p.Thr1695_Pro1699del
NM_000548.5:c.5197_5211del MANE Select	NP_000539.2:p.Thr1733_Pro1737del
NM_001370404.1:c.5065_5079del	NP_001357333.1:p.Thr1689_Pro1693del
NM_001370405.1:c.5056_5070del	NP_001357334.1:p.Thr1686_Pro1690del
NM_001077183.3:c.4996_5010del	NP_001070651.1:p.Thr1666_Pro1670del
NM_001114382.3:c.5128_5142del	NP_001107854.1:p.Thr1710_Pro1714del
NM_001318827.2:c.4888_4902del	NP_001305756.1:p.Thr1630_Pro1634del
NM_001318829.2:c.4852_4866del	NP_001305758.1:p.Thr1618_Pro1622del
NM_001318831.2:c.4465_4479del	NP_001305760.1:p.Thr1489_Pro1493del
NM_001318832.2:c.5029_5043del	NP_001305761.1:p.Thr1677_Pro1681del
NM_001363528.2:c.4999_5013del	NP_001350457.1:p.Thr1667_Pro1671del
NM_021055.3:c.5068_5082del	NP_066399.2:p.Thr1690_Pro1694del