Canonical Allele Identifier: CA022151

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49454
• ClinVar RCV Id: RCV000042714 ; RCV002283448
• dbSNP Id: rs137854408
• MyVariant Identifiers: chr16:g.2138278_2138281del (hg19) ; chr16:g.2088277_2088280del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088277_2088280del , CM000678.2:g.2088277_2088280del	GRCh38
NC_000016.9:g.2138278_2138281del , CM000678.1:g.2138278_2138281del	GRCh37
NC_000016.8:g.2078279_2078282del	NCBI36
NG_005895.1:g.43972_43975del , LRG_487:g.43972_43975del
NG_008617.1:g.54943_54946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3560_*3563del	ENSP00000455997.2:n.*3560_*3563del
ENST00000642206.2:c.5058_5061del	ENSP00000495146.2:p.Lys1688GlyfsTer?
ENST00000642365.2:c.5208_5211del	ENSP00000495459.2:p.Lys1738GlyfsTer?
ENST00000644417.2:c.*5724_*5727del	ENSP00000493912.2:n.*5724_*5727del
ENST00000646464.2:c.*7960_*7963del	ENSP00000496610.2:n.*7960_*7963del
ENST00000219476.9:c.5211_5214del MANE Select	ENSP00000219476.3:p.Lys1739GlyfsTer?
ENST00000350773.9:c.5142_5145del	ENSP00000344383.4:p.Lys1716GlyfsTer?
ENST00000401874.7:c.5010_5013del	ENSP00000384468.2:p.Lys1672GlyfsTer?
ENST00000568454.6:c.5043_5046del	ENSP00000454487.1:p.Lys1683GlyfsTer?
ENST00000569110.2:c.1434_1437del
ENST00000569930.2:n.3093_3096del
ENST00000642365.1:c.3865_3868del
ENST00000642561.1:c.5070_5073del	ENSP00000495099.1:p.Lys1692GlyfsTer?
ENST00000642791.1:n.808_811del
ENST00000642797.1:c.5013_5016del	ENSP00000493846.1:p.Lys1673GlyfsTer?
ENST00000642936.1:c.5079_5082del	ENSP00000494514.1:p.Lys1695GlyfsTer?
ENST00000643088.1:c.5004_5007del	ENSP00000494747.1:p.Lys1670GlyfsTer?
ENST00000643426.1:n.2859_2862del
ENST00000643946.1:c.5136_5139del	ENSP00000495927.1:p.Lys1714GlyfsTer?
ENST00000644043.1:c.5082_5085del	ENSP00000496262.1:p.Lys1696GlyfsTer?
ENST00000644329.1:c.5097_5100del	ENSP00000496611.1:p.Lys1701GlyfsTer?
ENST00000644335.1:c.5007_5010del	ENSP00000496317.1:p.Lys1671GlyfsTer?
ENST00000644399.1:c.5132_5135del
ENST00000645024.1:n.3295_3298del
ENST00000646388.1:c.5205_5208del	ENSP00000495921.1:p.Lys1737GlyfsTer?
ENST00000646634.1:n.4026_4029del
ENST00000646674.1:n.2463_2466del
ENST00000647042.1:n.2434_2437del
ENST00000647180.1:n.2324_2327del
ENST00000219476.7:c.5211_5214del	ENSP00000219476.3:p.Lys1739GlyfsTer?
ENST00000350773.8:c.5142_5145del	ENSP00000344383.4:p.Lys1716GlyfsTer?
ENST00000382538.10:c.4866_4869del	ENSP00000371978.6:p.Lys1624GlyfsTer?
ENST00000401874.6:c.5010_5013del	ENSP00000384468.2:p.Lys1672GlyfsTer?
ENST00000439117.6:c.*4378_*4381del	ENSP00000406980.2:n.*4378_*4381del
ENST00000439673.6:c.4902_4905del	ENSP00000399232.2:p.Lys1636GlyfsTer?
ENST00000497886.5:n.2934_2937del
ENST00000568454.5:c.5043_5046del	ENSP00000454487.1:p.Lys1683GlyfsTer?
ENST00000569110.1:c.1393_1396del
ENST00000569930.1:n.2326_2329del
NM_000548.3:c.5211_5214del , LRG_487t1:c.5211_5214del	NP_000539.2:p.Lys1739GlyfsTer?
NM_001077183.1:c.5010_5013del	NP_001070651.1:p.Lys1672GlyfsTer?
NM_001114382.1:c.5142_5145del	NP_001107854.1:p.Lys1716GlyfsTer?
XM_005255529.3:c.5082_5085del	XP_005255586.2:p.Lys1696GlyfsTer?
XM_005255531.3:c.5013_5016del	XP_005255588.2:p.Lys1673GlyfsTer?
XM_011522636.1:c.5265_5268del	XP_011520938.1:p.Lys1757GlyfsTer?
XM_011522637.1:c.5262_5265del	XP_011520939.1:p.Lys1756GlyfsTer?
XM_011522638.1:c.5154_5157del	XP_011520940.1:p.Lys1720GlyfsTer?
XM_011522639.1:c.5136_5139del	XP_011520941.1:p.Lys1714GlyfsTer?
XM_011522640.1:c.5133_5136del	XP_011520942.1:p.Lys1713GlyfsTer?
XM_011522641.1:c.4902_4905del	XP_011520943.1:p.Lys1636GlyfsTer?
NM_000548.4:c.5211_5214del	NP_000539.2:p.Lys1739GlyfsTer?
NM_001077183.2:c.5010_5013del	NP_001070651.1:p.Lys1672GlyfsTer?
NM_001114382.2:c.5142_5145del	NP_001107854.1:p.Lys1716GlyfsTer?
NM_001318827.1:c.4902_4905del	NP_001305756.1:p.Lys1636GlyfsTer?
NM_001318829.1:c.4866_4869del	NP_001305758.1:p.Lys1624GlyfsTer?
NM_001318831.1:c.4479_4482del	NP_001305760.1:p.Lys1495GlyfsTer?
NM_001318832.1:c.5043_5046del	NP_001305761.1:p.Lys1683GlyfsTer?
NM_001363528.1:c.5013_5016del	NP_001350457.1:p.Lys1673GlyfsTer?
NM_021055.2:c.5082_5085del	NP_066399.2:p.Lys1696GlyfsTer?
XM_005255531.4:c.5013_5016del	XP_005255588.2:p.Lys1673GlyfsTer?
XM_011522636.2:c.5265_5268del	XP_011520938.1:p.Lys1757GlyfsTer?
XM_011522637.2:c.5262_5265del	XP_011520939.1:p.Lys1756GlyfsTer?
XM_011522638.2:c.5427_5430del	XP_011520940.2:p.Lys1811GlyfsTer?
XM_011522639.2:c.5136_5139del	XP_011520941.1:p.Lys1714GlyfsTer?
XM_011522640.2:c.5133_5136del	XP_011520942.1:p.Lys1713GlyfsTer?
XM_017023615.1:c.5208_5211del	XP_016879104.1:p.Lys1738GlyfsTer?
XM_017023616.1:c.5079_5082del	XP_016879105.1:p.Lys1695GlyfsTer?
XM_017023617.1:c.5175_5178del	XP_016879106.1:p.Lys1727GlyfsTer?
XM_017023618.1:c.3921_3924del	XP_016879107.1:p.Lys1309GlyfsTer?
XM_024450413.1:c.5097_5100del	XP_024306181.1:p.Lys1701GlyfsTer?
NM_000548.5:c.5211_5214del MANE Select	NP_000539.2:p.Lys1739GlyfsTer?
NM_001370404.1:c.5079_5082del	NP_001357333.1:p.Lys1695GlyfsTer?
NM_001370405.1:c.5070_5073del	NP_001357334.1:p.Lys1692GlyfsTer?
NM_001077183.3:c.5010_5013del	NP_001070651.1:p.Lys1672GlyfsTer?
NM_001114382.3:c.5142_5145del	NP_001107854.1:p.Lys1716GlyfsTer?
NM_001318827.2:c.4902_4905del	NP_001305756.1:p.Lys1636GlyfsTer?
NM_001318829.2:c.4866_4869del	NP_001305758.1:p.Lys1624GlyfsTer?
NM_001318831.2:c.4479_4482del	NP_001305760.1:p.Lys1495GlyfsTer?
NM_001318832.2:c.5043_5046del	NP_001305761.1:p.Lys1683GlyfsTer?
NM_001363528.2:c.5013_5016del	NP_001350457.1:p.Lys1673GlyfsTer?
NM_021055.3:c.5082_5085del	NP_066399.2:p.Lys1696GlyfsTer?