Canonical Allele Identifier: CA020431

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49296
• ClinVar RCV Id: RCV000042555 ; RCV000491261 ; RCV001852881
• dbSNP Id: rs137854307
• MyVariant Identifiers: chr16:g.2134645_2134646del (hg19) ; chr16:g.2084644_2084645del (hg38)
• PubMed: PMID:10533067 ; PMID:11112665

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084644_2084645del , CM000678.2:g.2084644_2084645del	GRCh38
NC_000016.9:g.2134645_2134646del , CM000678.1:g.2134645_2134646del	GRCh37
NC_000016.8:g.2074646_2074647del	NCBI36
NG_005895.1:g.40339_40340del , LRG_487:g.40339_40340del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2771_*2772del	ENSP00000455997.2:n.*2771_*2772del
ENST00000642206.2:c.4269_4270del	ENSP00000495146.2:p.Arg1423SerfsTer?
ENST00000642365.2:c.4419_4420del	ENSP00000495459.2:p.Arg1473SerfsTer?
ENST00000644417.2:c.*4802_*4803del	ENSP00000493912.2:n.*4802_*4803del
ENST00000646464.2:c.*7171_*7172del	ENSP00000496610.2:n.*7171_*7172del
ENST00000219476.9:c.4422_4423del MANE Select	ENSP00000219476.3:p.Arg1474SerfsTer?
ENST00000350773.9:c.4353_4354del	ENSP00000344383.4:p.Arg1451SerfsTer?
ENST00000401874.7:c.4221_4222del	ENSP00000384468.2:p.Arg1407SerfsTer?
ENST00000568454.6:c.4254_4255del	ENSP00000454487.1:p.Arg1418SerfsTer?
ENST00000569110.2:c.658_659del
ENST00000569930.2:n.2304_2305del
ENST00000642365.1:c.3076_3077del
ENST00000642561.1:c.4293_4294del	ENSP00000495099.1:p.Arg1431SerfsTer?
ENST00000642728.1:n.604_605del
ENST00000642797.1:c.4224_4225del	ENSP00000493846.1:p.Arg1408SerfsTer?
ENST00000642936.1:c.4290_4291del	ENSP00000494514.1:p.Arg1430SerfsTer?
ENST00000643088.1:c.4221_4222del	ENSP00000494747.1:p.Arg1407SerfsTer?
ENST00000643177.1:n.436_437del
ENST00000643426.1:n.2070_2071del
ENST00000643946.1:c.4353_4354del	ENSP00000495927.1:p.Arg1451SerfsTer?
ENST00000644043.1:c.4293_4294del	ENSP00000496262.1:p.Arg1431SerfsTer?
ENST00000644329.1:c.4221_4222del	ENSP00000496611.1:p.Arg1407SerfsTer?
ENST00000644335.1:c.4224_4225del	ENSP00000496317.1:p.Arg1408SerfsTer?
ENST00000644399.1:c.4343_4344del
ENST00000645024.1:n.2506_2507del
ENST00000646388.1:c.4422_4423del	ENSP00000495921.1:p.Arg1474SerfsTer?
ENST00000646634.1:n.3237_3238del
ENST00000646674.1:n.1674_1675del
ENST00000647042.1:n.1645_1646del
ENST00000647180.1:n.1535_1536del
ENST00000219476.7:c.4422_4423del	ENSP00000219476.3:p.Arg1474SerfsTer?
ENST00000350773.8:c.4353_4354del	ENSP00000344383.4:p.Arg1451SerfsTer?
ENST00000382538.10:c.4077_4078del	ENSP00000371978.6:p.Arg1359SerfsTer?
ENST00000401874.6:c.4221_4222del	ENSP00000384468.2:p.Arg1407SerfsTer?
ENST00000439117.6:c.*3589_*3590del	ENSP00000406980.2:n.*3589_*3590del
ENST00000439673.6:c.4113_4114del	ENSP00000399232.2:p.Arg1371SerfsTer?
ENST00000497886.5:n.2180_2181del
ENST00000568454.5:c.4254_4255del	ENSP00000454487.1:p.Arg1418SerfsTer?
ENST00000569110.1:c.604_605del
ENST00000569930.1:n.1537_1538del
NM_000548.3:c.4422_4423del , LRG_487t1:c.4422_4423del	NP_000539.2:p.Arg1474SerfsTer?
NM_001077183.1:c.4221_4222del	NP_001070651.1:p.Arg1407SerfsTer?
NM_001114382.1:c.4353_4354del	NP_001107854.1:p.Arg1451SerfsTer?
XM_005255529.3:c.4293_4294del	XP_005255586.2:p.Arg1431SerfsTer?
XM_005255531.3:c.4224_4225del	XP_005255588.2:p.Arg1408SerfsTer?
XM_011522636.1:c.4476_4477del	XP_011520938.1:p.Arg1492SerfsTer?
XM_011522637.1:c.4473_4474del	XP_011520939.1:p.Arg1491SerfsTer?
XM_011522638.1:c.4365_4366del	XP_011520940.1:p.Arg1455SerfsTer?
XM_011522639.1:c.4347_4348del	XP_011520941.1:p.Arg1449SerfsTer?
XM_011522640.1:c.4344_4345del	XP_011520942.1:p.Arg1448SerfsTer?
XM_011522641.1:c.4113_4114del	XP_011520943.1:p.Arg1371SerfsTer?
NM_000548.4:c.4422_4423del	NP_000539.2:p.Arg1474SerfsTer?
NM_001077183.2:c.4221_4222del	NP_001070651.1:p.Arg1407SerfsTer?
NM_001114382.2:c.4353_4354del	NP_001107854.1:p.Arg1451SerfsTer?
NM_001318827.1:c.4113_4114del	NP_001305756.1:p.Arg1371SerfsTer?
NM_001318829.1:c.4077_4078del	NP_001305758.1:p.Arg1359SerfsTer?
NM_001318831.1:c.3690_3691del	NP_001305760.1:p.Arg1230SerfsTer?
NM_001318832.1:c.4254_4255del	NP_001305761.1:p.Arg1418SerfsTer?
NM_001363528.1:c.4224_4225del	NP_001350457.1:p.Arg1408SerfsTer?
NM_021055.2:c.4293_4294del	NP_066399.2:p.Arg1431SerfsTer?
XM_005255531.4:c.4224_4225del	XP_005255588.2:p.Arg1408SerfsTer?
XM_011522636.2:c.4476_4477del	XP_011520938.1:p.Arg1492SerfsTer?
XM_011522637.2:c.4473_4474del	XP_011520939.1:p.Arg1491SerfsTer?
XM_011522638.2:c.4638_4639del	XP_011520940.2:p.Arg1546SerfsTer?
XM_011522639.2:c.4347_4348del	XP_011520941.1:p.Arg1449SerfsTer?
XM_011522640.2:c.4344_4345del	XP_011520942.1:p.Arg1448SerfsTer?
XM_017023615.1:c.4419_4420del	XP_016879104.1:p.Arg1473SerfsTer?
XM_017023616.1:c.4290_4291del	XP_016879105.1:p.Arg1430SerfsTer?
XM_017023617.1:c.4386_4387del	XP_016879106.1:p.Arg1462SerfsTer?
XM_017023618.1:c.3132_3133del	XP_016879107.1:p.Arg1044SerfsTer?
XM_024450413.1:c.4221_4222del	XP_024306181.1:p.Arg1407SerfsTer?
NM_000548.5:c.4422_4423del MANE Select	NP_000539.2:p.Arg1474SerfsTer?
NM_001370404.1:c.4290_4291del	NP_001357333.1:p.Arg1430SerfsTer?
NM_001370405.1:c.4293_4294del	NP_001357334.1:p.Arg1431SerfsTer?
NM_001077183.3:c.4221_4222del	NP_001070651.1:p.Arg1407SerfsTer?
NM_001114382.3:c.4353_4354del	NP_001107854.1:p.Arg1451SerfsTer?
NM_001318827.2:c.4113_4114del	NP_001305756.1:p.Arg1371SerfsTer?
NM_001318829.2:c.4077_4078del	NP_001305758.1:p.Arg1359SerfsTer?
NM_001318831.2:c.3690_3691del	NP_001305760.1:p.Arg1230SerfsTer?
NM_001318832.2:c.4254_4255del	NP_001305761.1:p.Arg1418SerfsTer?
NM_001363528.2:c.4224_4225del	NP_001350457.1:p.Arg1408SerfsTer?
NM_021055.3:c.4293_4294del	NP_066399.2:p.Arg1431SerfsTer?