Canonical Allele Identifier: CA10603302

Gene: TSC2

Linked Data

• ClinVar Variation Id: 280618
• ClinVar RCV Id: RCV000289342
• dbSNP Id: rs886041789
• MyVariant Identifiers: chr16:g.2135002del (hg19) ; chr16:g.2085001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085001del , CM000678.2:g.2085001del	GRCh38
NC_000016.9:g.2135002del , CM000678.1:g.2135002del	GRCh37
NC_000016.8:g.2075003del	NCBI36
NG_005895.1:g.40696del , LRG_487:g.40696del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2893del	ENSP00000455997.2:n.*2893del
ENST00000642206.2:c.4391del	ENSP00000495146.2:p.Asn1464ThrfsTer?
ENST00000642365.2:c.4541del	ENSP00000495459.2:p.Asn1514ThrfsTer?
ENST00000644417.2:c.*4924del	ENSP00000493912.2:n.*4924del
ENST00000646464.2:c.*7293del	ENSP00000496610.2:n.*7293del
ENST00000219476.9:c.4544del MANE Select	ENSP00000219476.3:p.Asn1515ThrfsTer?
ENST00000350773.9:c.4475del	ENSP00000344383.4:p.Asn1492ThrfsTer?
ENST00000401874.7:c.4343del	ENSP00000384468.2:p.Asn1448ThrfsTer?
ENST00000568454.6:c.4376del	ENSP00000454487.1:p.Asn1459ThrfsTer?
ENST00000569110.2:c.767del
ENST00000569930.2:n.2426del
ENST00000642365.1:c.3198del
ENST00000642561.1:c.4415del	ENSP00000495099.1:p.Asn1472ThrfsTer?
ENST00000642728.1:n.726del
ENST00000642797.1:c.4346del	ENSP00000493846.1:p.Asn1449ThrfsTer?
ENST00000642936.1:c.4412del	ENSP00000494514.1:p.Asn1471ThrfsTer?
ENST00000643088.1:c.4343del	ENSP00000494747.1:p.Asn1448ThrfsTer?
ENST00000643177.1:n.558del
ENST00000643426.1:n.2192del
ENST00000643946.1:c.4475del	ENSP00000495927.1:p.Asn1492ThrfsTer?
ENST00000644043.1:c.4415del	ENSP00000496262.1:p.Asn1472ThrfsTer?
ENST00000644329.1:c.4343del	ENSP00000496611.1:p.Asn1448ThrfsTer?
ENST00000644335.1:c.4346del	ENSP00000496317.1:p.Asn1449ThrfsTer?
ENST00000644399.1:c.4465del
ENST00000645024.1:n.2628del
ENST00000646388.1:c.4544del	ENSP00000495921.1:p.Asn1515ThrfsTer?
ENST00000646634.1:n.3359del
ENST00000646674.1:n.1796del
ENST00000647042.1:n.1767del
ENST00000647180.1:n.1657del
ENST00000219476.7:c.4544del	ENSP00000219476.3:p.Asn1515ThrfsTer?
ENST00000350773.8:c.4475del	ENSP00000344383.4:p.Asn1492ThrfsTer?
ENST00000382538.10:c.4199del	ENSP00000371978.6:p.Asn1400ThrfsTer?
ENST00000401874.6:c.4343del	ENSP00000384468.2:p.Asn1448ThrfsTer?
ENST00000439117.6:c.*3711del	ENSP00000406980.2:n.*3711del
ENST00000439673.6:c.4235del	ENSP00000399232.2:p.Asn1412ThrfsTer?
ENST00000497886.5:n.2302del
ENST00000568454.5:c.4376del	ENSP00000454487.1:p.Asn1459ThrfsTer?
ENST00000569110.1:c.726del
ENST00000569930.1:n.1659del
NM_000548.3:c.4544del , LRG_487t1:c.4544del	NP_000539.2:p.Asn1515ThrfsTer?
NM_001077183.1:c.4343del	NP_001070651.1:p.Asn1448ThrfsTer?
NM_001114382.1:c.4475del	NP_001107854.1:p.Asn1492ThrfsTer?
XM_005255529.3:c.4415del	XP_005255586.2:p.Asn1472ThrfsTer?
XM_005255531.3:c.4346del	XP_005255588.2:p.Asn1449ThrfsTer?
XM_011522636.1:c.4598del	XP_011520938.1:p.Asn1533ThrfsTer?
XM_011522637.1:c.4595del	XP_011520939.1:p.Asn1532ThrfsTer?
XM_011522638.1:c.4487del	XP_011520940.1:p.Asn1496ThrfsTer?
XM_011522639.1:c.4469del	XP_011520941.1:p.Asn1490ThrfsTer?
XM_011522640.1:c.4466del	XP_011520942.1:p.Asn1489ThrfsTer?
XM_011522641.1:c.4235del	XP_011520943.1:p.Asn1412ThrfsTer?
NM_000548.4:c.4544del	NP_000539.2:p.Asn1515ThrfsTer?
NM_001077183.2:c.4343del	NP_001070651.1:p.Asn1448ThrfsTer?
NM_001114382.2:c.4475del	NP_001107854.1:p.Asn1492ThrfsTer?
NM_001318827.1:c.4235del	NP_001305756.1:p.Asn1412ThrfsTer?
NM_001318829.1:c.4199del	NP_001305758.1:p.Asn1400ThrfsTer?
NM_001318831.1:c.3812del	NP_001305760.1:p.Asn1271ThrfsTer?
NM_001318832.1:c.4376del	NP_001305761.1:p.Asn1459ThrfsTer?
NM_001363528.1:c.4346del	NP_001350457.1:p.Asn1449ThrfsTer?
NM_021055.2:c.4415del	NP_066399.2:p.Asn1472ThrfsTer?
XM_005255531.4:c.4346del	XP_005255588.2:p.Asn1449ThrfsTer?
XM_011522636.2:c.4598del	XP_011520938.1:p.Asn1533ThrfsTer?
XM_011522637.2:c.4595del	XP_011520939.1:p.Asn1532ThrfsTer?
XM_011522638.2:c.4760del	XP_011520940.2:p.Asn1587ThrfsTer?
XM_011522639.2:c.4469del	XP_011520941.1:p.Asn1490ThrfsTer?
XM_011522640.2:c.4466del	XP_011520942.1:p.Asn1489ThrfsTer?
XM_017023615.1:c.4541del	XP_016879104.1:p.Asn1514ThrfsTer?
XM_017023616.1:c.4412del	XP_016879105.1:p.Asn1471ThrfsTer?
XM_017023617.1:c.4508del	XP_016879106.1:p.Asn1503ThrfsTer?
XM_017023618.1:c.3254del	XP_016879107.1:p.Asn1085ThrfsTer?
XM_024450413.1:c.4343del	XP_024306181.1:p.Asn1448ThrfsTer?
NM_000548.5:c.4544del MANE Select	NP_000539.2:p.Asn1515ThrfsTer?
NM_001370404.1:c.4412del	NP_001357333.1:p.Asn1471ThrfsTer?
NM_001370405.1:c.4415del	NP_001357334.1:p.Asn1472ThrfsTer?
NM_001077183.3:c.4343del	NP_001070651.1:p.Asn1448ThrfsTer?
NM_001114382.3:c.4475del	NP_001107854.1:p.Asn1492ThrfsTer?
NM_001318827.2:c.4235del	NP_001305756.1:p.Asn1412ThrfsTer?
NM_001318829.2:c.4199del	NP_001305758.1:p.Asn1400ThrfsTer?
NM_001318831.2:c.3812del	NP_001305760.1:p.Asn1271ThrfsTer?
NM_001318832.2:c.4376del	NP_001305761.1:p.Asn1459ThrfsTer?
NM_001363528.2:c.4346del	NP_001350457.1:p.Asn1449ThrfsTer?
NM_021055.3:c.4415del	NP_066399.2:p.Asn1472ThrfsTer?