Canonical Allele Identifier: CA022116

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49952
• ClinVar RCV Id: RCV000043219
• dbSNP Id: rs137854091
• MyVariant Identifiers: chr16:g.2138264_2138279del (hg19) ; chr16:g.2088263_2088278del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088263_2088278del , CM000678.2:g.2088263_2088278del	GRCh38
NC_000016.9:g.2138264_2138279del , CM000678.1:g.2138264_2138279del	GRCh37
NC_000016.8:g.2078265_2078280del	NCBI36
NG_005895.1:g.43958_43973del , LRG_487:g.43958_43973del
NG_008617.1:g.54943_54958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3546_*3561del	ENSP00000455997.2:n.*3546_*3561del
ENST00000642206.2:c.5044_5059del	ENSP00000495146.2:p.Thr1682ProfsTer?
ENST00000642365.2:c.5194_5209del	ENSP00000495459.2:p.Thr1732ProfsTer?
ENST00000644417.2:c.*5710_*5725del	ENSP00000493912.2:n.*5710_*5725del
ENST00000646464.2:c.*7946_*7961del	ENSP00000496610.2:n.*7946_*7961del
ENST00000219476.9:c.5197_5212del MANE Select	ENSP00000219476.3:p.Thr1733ProfsTer?
ENST00000350773.9:c.5128_5143del	ENSP00000344383.4:p.Thr1710ProfsTer?
ENST00000401874.7:c.4996_5011del	ENSP00000384468.2:p.Thr1666ProfsTer?
ENST00000568454.6:c.5029_5044del	ENSP00000454487.1:p.Thr1677ProfsTer?
ENST00000569110.2:c.1420_1435del
ENST00000569930.2:n.3079_3094del
ENST00000642365.1:c.3851_3866del
ENST00000642561.1:c.5056_5071del	ENSP00000495099.1:p.Thr1686ProfsTer?
ENST00000642791.1:n.794_809del
ENST00000642797.1:c.4999_5014del	ENSP00000493846.1:p.Thr1667ProfsTer?
ENST00000642936.1:c.5065_5080del	ENSP00000494514.1:p.Thr1689ProfsTer?
ENST00000643088.1:c.4990_5005del	ENSP00000494747.1:p.Thr1664ProfsTer?
ENST00000643426.1:n.2845_2860del
ENST00000643946.1:c.5122_5137del	ENSP00000495927.1:p.Thr1708ProfsTer?
ENST00000644043.1:c.5068_5083del	ENSP00000496262.1:p.Thr1690ProfsTer?
ENST00000644329.1:c.5083_5098del	ENSP00000496611.1:p.Thr1695ProfsTer?
ENST00000644335.1:c.4993_5008del	ENSP00000496317.1:p.Thr1665ProfsTer?
ENST00000644399.1:c.5118_5133del
ENST00000645024.1:n.3281_3296del
ENST00000646388.1:c.5191_5206del	ENSP00000495921.1:p.Thr1731ProfsTer?
ENST00000646634.1:n.4012_4027del
ENST00000646674.1:n.2449_2464del
ENST00000647042.1:n.2420_2435del
ENST00000647180.1:n.2310_2325del
ENST00000219476.7:c.5197_5212del	ENSP00000219476.3:p.Thr1733ProfsTer?
ENST00000350773.8:c.5128_5143del	ENSP00000344383.4:p.Thr1710ProfsTer?
ENST00000382538.10:c.4852_4867del	ENSP00000371978.6:p.Thr1618ProfsTer?
ENST00000401874.6:c.4996_5011del	ENSP00000384468.2:p.Thr1666ProfsTer?
ENST00000439117.6:c.*4364_*4379del	ENSP00000406980.2:n.*4364_*4379del
ENST00000439673.6:c.4888_4903del	ENSP00000399232.2:p.Thr1630ProfsTer?
ENST00000497886.5:n.2920_2935del
ENST00000568454.5:c.5029_5044del	ENSP00000454487.1:p.Thr1677ProfsTer?
ENST00000569110.1:c.1379_1394del
ENST00000569930.1:n.2312_2327del
NM_000548.3:c.5197_5212del , LRG_487t1:c.5197_5212del	NP_000539.2:p.Thr1733ProfsTer?
NM_001077183.1:c.4996_5011del	NP_001070651.1:p.Thr1666ProfsTer?
NM_001114382.1:c.5128_5143del	NP_001107854.1:p.Thr1710ProfsTer?
XM_005255529.3:c.5068_5083del	XP_005255586.2:p.Thr1690ProfsTer?
XM_005255531.3:c.4999_5014del	XP_005255588.2:p.Thr1667ProfsTer?
XM_011522636.1:c.5251_5266del	XP_011520938.1:p.Thr1751ProfsTer?
XM_011522637.1:c.5248_5263del	XP_011520939.1:p.Thr1750ProfsTer?
XM_011522638.1:c.5140_5155del	XP_011520940.1:p.Thr1714ProfsTer?
XM_011522639.1:c.5122_5137del	XP_011520941.1:p.Thr1708ProfsTer?
XM_011522640.1:c.5119_5134del	XP_011520942.1:p.Thr1707ProfsTer?
XM_011522641.1:c.4888_4903del	XP_011520943.1:p.Thr1630ProfsTer?
NM_000548.4:c.5197_5212del	NP_000539.2:p.Thr1733ProfsTer?
NM_001077183.2:c.4996_5011del	NP_001070651.1:p.Thr1666ProfsTer?
NM_001114382.2:c.5128_5143del	NP_001107854.1:p.Thr1710ProfsTer?
NM_001318827.1:c.4888_4903del	NP_001305756.1:p.Thr1630ProfsTer?
NM_001318829.1:c.4852_4867del	NP_001305758.1:p.Thr1618ProfsTer?
NM_001318831.1:c.4465_4480del	NP_001305760.1:p.Thr1489ProfsTer?
NM_001318832.1:c.5029_5044del	NP_001305761.1:p.Thr1677ProfsTer?
NM_001363528.1:c.4999_5014del	NP_001350457.1:p.Thr1667ProfsTer?
NM_021055.2:c.5068_5083del	NP_066399.2:p.Thr1690ProfsTer?
XM_005255531.4:c.4999_5014del	XP_005255588.2:p.Thr1667ProfsTer?
XM_011522636.2:c.5251_5266del	XP_011520938.1:p.Thr1751ProfsTer?
XM_011522637.2:c.5248_5263del	XP_011520939.1:p.Thr1750ProfsTer?
XM_011522638.2:c.5413_5428del	XP_011520940.2:p.Thr1805ProfsTer?
XM_011522639.2:c.5122_5137del	XP_011520941.1:p.Thr1708ProfsTer?
XM_011522640.2:c.5119_5134del	XP_011520942.1:p.Thr1707ProfsTer?
XM_017023615.1:c.5194_5209del	XP_016879104.1:p.Thr1732ProfsTer?
XM_017023616.1:c.5065_5080del	XP_016879105.1:p.Thr1689ProfsTer?
XM_017023617.1:c.5161_5176del	XP_016879106.1:p.Thr1721ProfsTer?
XM_017023618.1:c.3907_3922del	XP_016879107.1:p.Thr1303ProfsTer?
XM_024450413.1:c.5083_5098del	XP_024306181.1:p.Thr1695ProfsTer?
NM_000548.5:c.5197_5212del MANE Select	NP_000539.2:p.Thr1733ProfsTer?
NM_001370404.1:c.5065_5080del	NP_001357333.1:p.Thr1689ProfsTer?
NM_001370405.1:c.5056_5071del	NP_001357334.1:p.Thr1686ProfsTer?
NM_001077183.3:c.4996_5011del	NP_001070651.1:p.Thr1666ProfsTer?
NM_001114382.3:c.5128_5143del	NP_001107854.1:p.Thr1710ProfsTer?
NM_001318827.2:c.4888_4903del	NP_001305756.1:p.Thr1630ProfsTer?
NM_001318829.2:c.4852_4867del	NP_001305758.1:p.Thr1618ProfsTer?
NM_001318831.2:c.4465_4480del	NP_001305760.1:p.Thr1489ProfsTer?
NM_001318832.2:c.5029_5044del	NP_001305761.1:p.Thr1677ProfsTer?
NM_001363528.2:c.4999_5014del	NP_001350457.1:p.Thr1667ProfsTer?
NM_021055.3:c.5068_5083del	NP_066399.2:p.Thr1690ProfsTer?