Canonical Allele Identifier: CA620705068

Gene: TSC2

Linked Data

• dbSNP Id: rs1279958109
• gnomAD v2: 16-2138258-AACC-A
• gnomAD v3: 16-2088257-AACC-A
• gnomAD v4: 16-2088257-AACC-A
• MyVariant Identifiers: chr16:g.2138259_2138261del (hg19) ; chr16:g.2088258_2088260del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088258_2088260del , CM000678.2:g.2088258_2088260del	GRCh38
NC_000016.9:g.2138259_2138261del , CM000678.1:g.2138259_2138261del	GRCh37
NC_000016.8:g.2078260_2078262del	NCBI36
NG_005895.1:g.43953_43955del , LRG_487:g.43953_43955del
NG_008617.1:g.54961_54963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3541_*3543del	ENSP00000455997.2:n.*3541_*3543del
ENST00000642206.2:c.5039_5041del	ENSP00000495146.2:p.Asn1680_Pro1681delinsThr
ENST00000642365.2:c.5189_5191del	ENSP00000495459.2:p.Asn1730_Pro1731delinsThr
ENST00000644417.2:c.*5705_*5707del	ENSP00000493912.2:n.*5705_*5707del
ENST00000646464.2:c.*7941_*7943del	ENSP00000496610.2:n.*7941_*7943del
ENST00000219476.9:c.5192_5194del MANE Select	ENSP00000219476.3:p.Asn1731_Pro1732delinsThr
ENST00000350773.9:c.5123_5125del	ENSP00000344383.4:p.Asn1708_Pro1709delinsThr
ENST00000401874.7:c.4991_4993del	ENSP00000384468.2:p.Asn1664_Pro1665delinsThr
ENST00000568454.6:c.5024_5026del	ENSP00000454487.1:p.Asn1675_Pro1676delinsThr
ENST00000569110.2:c.1415_1417del
ENST00000569930.2:n.3074_3076del
ENST00000642365.1:c.3846_3848del
ENST00000642561.1:c.5051_5053del	ENSP00000495099.1:p.Asn1684_Pro1685delinsThr
ENST00000642791.1:n.789_791del
ENST00000642797.1:c.4994_4996del	ENSP00000493846.1:p.Asn1665_Pro1666delinsThr
ENST00000642936.1:c.5060_5062del	ENSP00000494514.1:p.Asn1687_Pro1688delinsThr
ENST00000643088.1:c.4985_4987del	ENSP00000494747.1:p.Asn1662_Pro1663delinsThr
ENST00000643426.1:n.2840_2842del
ENST00000643946.1:c.5117_5119del	ENSP00000495927.1:p.Asn1706_Pro1707delinsThr
ENST00000644043.1:c.5063_5065del	ENSP00000496262.1:p.Asn1688_Pro1689delinsThr
ENST00000644329.1:c.5078_5080del	ENSP00000496611.1:p.Asn1693_Pro1694delinsThr
ENST00000644335.1:c.4988_4990del	ENSP00000496317.1:p.Asn1663_Pro1664delinsThr
ENST00000644399.1:c.5113_5115del
ENST00000645024.1:n.3276_3278del
ENST00000646388.1:c.5186_5188del	ENSP00000495921.1:p.Asn1729_Pro1730delinsThr
ENST00000646634.1:n.4007_4009del
ENST00000646674.1:n.2444_2446del
ENST00000647042.1:n.2415_2417del
ENST00000647180.1:n.2305_2307del
ENST00000219476.7:c.5192_5194del	ENSP00000219476.3:p.Asn1731_Pro1732delinsThr
ENST00000350773.8:c.5123_5125del	ENSP00000344383.4:p.Asn1708_Pro1709delinsThr
ENST00000382538.10:c.4847_4849del	ENSP00000371978.6:p.Asn1616_Pro1617delinsThr
ENST00000401874.6:c.4991_4993del	ENSP00000384468.2:p.Asn1664_Pro1665delinsThr
ENST00000439117.6:c.*4359_*4361del	ENSP00000406980.2:n.*4359_*4361del
ENST00000439673.6:c.4883_4885del	ENSP00000399232.2:p.Asn1628_Pro1629delinsThr
ENST00000497886.5:n.2915_2917del
ENST00000568454.5:c.5024_5026del	ENSP00000454487.1:p.Asn1675_Pro1676delinsThr
ENST00000569110.1:c.1374_1376del
ENST00000569930.1:n.2307_2309del
NM_000548.3:c.5192_5194del , LRG_487t1:c.5192_5194del	NP_000539.2:p.Asn1731_Pro1732delinsThr
NM_001077183.1:c.4991_4993del	NP_001070651.1:p.Asn1664_Pro1665delinsThr
NM_001114382.1:c.5123_5125del	NP_001107854.1:p.Asn1708_Pro1709delinsThr
XM_005255529.3:c.5063_5065del	XP_005255586.2:p.Asn1688_Pro1689delinsThr
XM_005255531.3:c.4994_4996del	XP_005255588.2:p.Asn1665_Pro1666delinsThr
XM_011522636.1:c.5246_5248del	XP_011520938.1:p.Asn1749_Pro1750delinsThr
XM_011522637.1:c.5243_5245del	XP_011520939.1:p.Asn1748_Pro1749delinsThr
XM_011522638.1:c.5135_5137del	XP_011520940.1:p.Asn1712_Pro1713delinsThr
XM_011522639.1:c.5117_5119del	XP_011520941.1:p.Asn1706_Pro1707delinsThr
XM_011522640.1:c.5114_5116del	XP_011520942.1:p.Asn1705_Pro1706delinsThr
XM_011522641.1:c.4883_4885del	XP_011520943.1:p.Asn1628_Pro1629delinsThr
NM_000548.4:c.5192_5194del	NP_000539.2:p.Asn1731_Pro1732delinsThr
NM_001077183.2:c.4991_4993del	NP_001070651.1:p.Asn1664_Pro1665delinsThr
NM_001114382.2:c.5123_5125del	NP_001107854.1:p.Asn1708_Pro1709delinsThr
NM_001318827.1:c.4883_4885del	NP_001305756.1:p.Asn1628_Pro1629delinsThr
NM_001318829.1:c.4847_4849del	NP_001305758.1:p.Asn1616_Pro1617delinsThr
NM_001318831.1:c.4460_4462del	NP_001305760.1:p.Asn1487_Pro1488delinsThr
NM_001318832.1:c.5024_5026del	NP_001305761.1:p.Asn1675_Pro1676delinsThr
NM_001363528.1:c.4994_4996del	NP_001350457.1:p.Asn1665_Pro1666delinsThr
NM_021055.2:c.5063_5065del	NP_066399.2:p.Asn1688_Pro1689delinsThr
XM_005255531.4:c.4994_4996del	XP_005255588.2:p.Asn1665_Pro1666delinsThr
XM_011522636.2:c.5246_5248del	XP_011520938.1:p.Asn1749_Pro1750delinsThr
XM_011522637.2:c.5243_5245del	XP_011520939.1:p.Asn1748_Pro1749delinsThr
XM_011522638.2:c.5408_5410del	XP_011520940.2:p.Asn1803_Pro1804delinsThr
XM_011522639.2:c.5117_5119del	XP_011520941.1:p.Asn1706_Pro1707delinsThr
XM_011522640.2:c.5114_5116del	XP_011520942.1:p.Asn1705_Pro1706delinsThr
XM_017023615.1:c.5189_5191del	XP_016879104.1:p.Asn1730_Pro1731delinsThr
XM_017023616.1:c.5060_5062del	XP_016879105.1:p.Asn1687_Pro1688delinsThr
XM_017023617.1:c.5156_5158del	XP_016879106.1:p.Asn1719_Pro1720delinsThr
XM_017023618.1:c.3902_3904del	XP_016879107.1:p.Asn1301_Pro1302delinsThr
XM_024450413.1:c.5078_5080del	XP_024306181.1:p.Asn1693_Pro1694delinsThr
NM_000548.5:c.5192_5194del MANE Select	NP_000539.2:p.Asn1731_Pro1732delinsThr
NM_001370404.1:c.5060_5062del	NP_001357333.1:p.Asn1687_Pro1688delinsThr
NM_001370405.1:c.5051_5053del	NP_001357334.1:p.Asn1684_Pro1685delinsThr
NM_001077183.3:c.4991_4993del	NP_001070651.1:p.Asn1664_Pro1665delinsThr
NM_001114382.3:c.5123_5125del	NP_001107854.1:p.Asn1708_Pro1709delinsThr
NM_001318827.2:c.4883_4885del	NP_001305756.1:p.Asn1628_Pro1629delinsThr
NM_001318829.2:c.4847_4849del	NP_001305758.1:p.Asn1616_Pro1617delinsThr
NM_001318831.2:c.4460_4462del	NP_001305760.1:p.Asn1487_Pro1488delinsThr
NM_001318832.2:c.5024_5026del	NP_001305761.1:p.Asn1675_Pro1676delinsThr
NM_001363528.2:c.4994_4996del	NP_001350457.1:p.Asn1665_Pro1666delinsThr
NM_021055.3:c.5063_5065del	NP_066399.2:p.Asn1688_Pro1689delinsThr