Canonical Allele Identifier: CA915940354

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1420220
• ClinVar RCV Id: RCV001914110
• dbSNP Id: rs2151481692

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081658_2081660del , CM000678.2:g.2081658_2081660del	GRCh38
NC_000016.9:g.2131659_2131661del , CM000678.1:g.2131659_2131661del	GRCh37
NC_000016.8:g.2071660_2071662del	NCBI36
NG_005895.1:g.37353_37355del , LRG_487:g.37353_37355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2092_*2094del	ENSP00000455997.2:n.*2092_*2094del
ENST00000642206.2:c.3590_3592del	ENSP00000495146.2:p.Asn1197del
ENST00000642365.2:c.3671_3673del	ENSP00000495459.2:p.Asn1224del
ENST00000644417.2:c.*4123_*4125del	ENSP00000493912.2:n.*4123_*4125del
ENST00000646464.2:c.*4596_*4598del	ENSP00000496610.2:n.*4596_*4598del
ENST00000219476.9:c.3674_3676del MANE Select	ENSP00000219476.3:p.Asn1225del
ENST00000350773.9:c.3674_3676del	ENSP00000344383.4:p.Asn1225del
ENST00000401874.7:c.3542_3544del	ENSP00000384468.2:p.Asn1181del
ENST00000568454.6:c.3575_3577del	ENSP00000454487.1:p.Asn1192del
ENST00000642365.1:c.2328_2330del
ENST00000642561.1:c.3545_3547del	ENSP00000495099.1:p.Asn1182del
ENST00000642797.1:c.3545_3547del	ENSP00000493846.1:p.Asn1182del
ENST00000642936.1:c.3542_3544del	ENSP00000494514.1:p.Asn1181del
ENST00000643088.1:c.3542_3544del	ENSP00000494747.1:p.Asn1181del
ENST00000643426.1:n.1322_1324del
ENST00000643533.1:n.184_186del
ENST00000643946.1:c.3674_3676del	ENSP00000495927.1:p.Asn1225del
ENST00000644043.1:c.3545_3547del	ENSP00000496262.1:p.Asn1182del
ENST00000644329.1:c.3542_3544del	ENSP00000496611.1:p.Asn1181del
ENST00000644335.1:c.3545_3547del	ENSP00000496317.1:p.Asn1182del
ENST00000644399.1:c.3664_3666del
ENST00000644722.1:n.820_822del
ENST00000645024.1:n.1827_1829del
ENST00000646388.1:c.3674_3676del	ENSP00000495921.1:p.Asn1225del
ENST00000646634.1:n.2558_2560del
ENST00000646674.1:n.289_291del
ENST00000647042.1:n.966_968del
ENST00000647180.1:n.154_156del
ENST00000219476.7:c.3674_3676del	ENSP00000219476.3:p.Asn1225del
ENST00000350773.8:c.3674_3676del	ENSP00000344383.4:p.Asn1225del
ENST00000382538.10:c.3398_3400del	ENSP00000371978.6:p.Asn1133del
ENST00000401874.6:c.3542_3544del	ENSP00000384468.2:p.Asn1181del
ENST00000439117.6:c.*2841_*2843del	ENSP00000406980.2:n.*2841_*2843del
ENST00000439673.6:c.3434_3436del	ENSP00000399232.2:p.Asn1145del
ENST00000497886.5:n.1501_1503del
ENST00000568454.5:c.3575_3577del	ENSP00000454487.1:p.Asn1192del
NM_000548.3:c.3674_3676del , LRG_487t1:c.3674_3676del	NP_000539.2:p.Asn1225del
NM_001077183.1:c.3542_3544del	NP_001070651.1:p.Asn1181del
NM_001114382.1:c.3674_3676del	NP_001107854.1:p.Asn1225del
XM_005255529.3:c.3545_3547del	XP_005255586.2:p.Asn1182del
XM_005255531.3:c.3545_3547del	XP_005255588.2:p.Asn1182del
XM_011522636.1:c.3674_3676del	XP_011520938.1:p.Asn1225del
XM_011522637.1:c.3671_3673del	XP_011520939.1:p.Asn1224del
XM_011522638.1:c.3563_3565del	XP_011520940.1:p.Asn1188del
XM_011522639.1:c.3545_3547del	XP_011520941.1:p.Asn1182del
XM_011522640.1:c.3542_3544del	XP_011520942.1:p.Asn1181del
XM_011522641.1:c.3434_3436del	XP_011520943.1:p.Asn1145del
NM_000548.4:c.3674_3676del	NP_000539.2:p.Asn1225del
NM_001077183.2:c.3542_3544del	NP_001070651.1:p.Asn1181del
NM_001114382.2:c.3674_3676del	NP_001107854.1:p.Asn1225del
NM_001318827.1:c.3434_3436del	NP_001305756.1:p.Asn1145del
NM_001318829.1:c.3398_3400del	NP_001305758.1:p.Asn1133del
NM_001318831.1:c.2942_2944del	NP_001305760.1:p.Asn981del
NM_001318832.1:c.3575_3577del	NP_001305761.1:p.Asn1192del
NM_001363528.1:c.3545_3547del	NP_001350457.1:p.Asn1182del
NM_021055.2:c.3545_3547del	NP_066399.2:p.Asn1182del
XM_005255531.4:c.3545_3547del	XP_005255588.2:p.Asn1182del
XM_011522636.2:c.3674_3676del	XP_011520938.1:p.Asn1225del
XM_011522637.2:c.3671_3673del	XP_011520939.1:p.Asn1224del
XM_011522638.2:c.3836_3838del	XP_011520940.2:p.Asn1279del
XM_011522639.2:c.3545_3547del	XP_011520941.1:p.Asn1182del
XM_011522640.2:c.3542_3544del	XP_011520942.1:p.Asn1181del
XM_017023615.1:c.3671_3673del	XP_016879104.1:p.Asn1224del
XM_017023616.1:c.3542_3544del	XP_016879105.1:p.Asn1181del
XM_017023617.1:c.3707_3709del	XP_016879106.1:p.Asn1236del
XM_017023618.1:c.2330_2332del	XP_016879107.1:p.Asn777del
XM_024450413.1:c.3542_3544del	XP_024306181.1:p.Asn1181del
NM_000548.5:c.3674_3676del MANE Select	NP_000539.2:p.Asn1225del
NM_001370404.1:c.3542_3544del	NP_001357333.1:p.Asn1181del
NM_001370405.1:c.3545_3547del	NP_001357334.1:p.Asn1182del
NM_001077183.3:c.3542_3544del	NP_001070651.1:p.Asn1181del
NM_001114382.3:c.3674_3676del	NP_001107854.1:p.Asn1225del
NM_001318827.2:c.3434_3436del	NP_001305756.1:p.Asn1145del
NM_001318829.2:c.3398_3400del	NP_001305758.1:p.Asn1133del
NM_001318831.2:c.2942_2944del	NP_001305760.1:p.Asn981del
NM_001318832.2:c.3575_3577del	NP_001305761.1:p.Asn1192del
NM_001363528.2:c.3545_3547del	NP_001350457.1:p.Asn1182del
NM_021055.3:c.3545_3547del	NP_066399.2:p.Asn1182del