Canonical Allele Identifier: CA319578

Gene: TSC2

Linked Data

• ClinVar Variation Id: 207777
• ClinVar RCV Id: RCV000190064
• dbSNP Id: rs796053507
• MyVariant Identifiers: chr16:g.2138449del (hg19) ; chr16:g.2088448del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088448del , CM000678.2:g.2088448del	GRCh38
NC_000016.9:g.2138449del , CM000678.1:g.2138449del	GRCh37
NC_000016.8:g.2078450del	NCBI36
NG_005895.1:g.44143del , LRG_487:g.44143del
NG_008617.1:g.54773del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3611del	ENSP00000455997.2:n.*3611del
ENST00000642206.2:c.5109del	ENSP00000495146.2:p.Cys1704AlafsTer?
ENST00000642365.2:c.5259del	ENSP00000495459.2:p.Cys1754AlafsTer?
ENST00000644417.2:c.*5775del	ENSP00000493912.2:n.*5775del
ENST00000646464.2:c.*8011del	ENSP00000496610.2:n.*8011del
ENST00000219476.9:c.5262del MANE Select	ENSP00000219476.3:p.Cys1755AlafsTer?
ENST00000350773.9:c.5193del	ENSP00000344383.4:p.Cys1732AlafsTer?
ENST00000401874.7:c.5061del	ENSP00000384468.2:p.Cys1688AlafsTer?
ENST00000568454.6:c.5094del	ENSP00000454487.1:p.Cys1699AlafsTer?
ENST00000569110.2:c.1485del
ENST00000569930.2:n.3144del
ENST00000642365.1:c.3916del
ENST00000642561.1:c.5121del	ENSP00000495099.1:p.Cys1708AlafsTer?
ENST00000642791.1:n.859del
ENST00000642797.1:c.5064del	ENSP00000493846.1:p.Cys1689AlafsTer?
ENST00000642936.1:c.5130del	ENSP00000494514.1:p.Cys1711AlafsTer?
ENST00000643088.1:c.5055del	ENSP00000494747.1:p.Cys1686AlafsTer?
ENST00000643426.1:n.2910del
ENST00000643946.1:c.5187del	ENSP00000495927.1:p.Cys1730AlafsTer?
ENST00000644043.1:c.5133del	ENSP00000496262.1:p.Cys1712AlafsTer?
ENST00000644329.1:c.5148del	ENSP00000496611.1:p.Cys1717AlafsTer?
ENST00000644335.1:c.5058del	ENSP00000496317.1:p.Cys1687AlafsTer?
ENST00000644399.1:c.5183del
ENST00000645024.1:n.3346del
ENST00000646388.1:c.5256del	ENSP00000495921.1:p.Cys1753AlafsTer?
ENST00000646634.1:n.4077del
ENST00000646674.1:n.2514del
ENST00000647042.1:n.2485del
ENST00000647180.1:n.2375del
ENST00000219476.7:c.5262del	ENSP00000219476.3:p.Cys1755AlafsTer?
ENST00000350773.8:c.5193del	ENSP00000344383.4:p.Cys1732AlafsTer?
ENST00000382538.10:c.4917del	ENSP00000371978.6:p.Cys1640AlafsTer?
ENST00000401874.6:c.5061del	ENSP00000384468.2:p.Cys1688AlafsTer?
ENST00000439117.6:c.*4429del	ENSP00000406980.2:n.*4429del
ENST00000439673.6:c.4953del	ENSP00000399232.2:p.Cys1652AlafsTer?
ENST00000497886.5:n.2985del
ENST00000568454.5:c.5094del	ENSP00000454487.1:p.Cys1699AlafsTer?
ENST00000569110.1:c.1444del
ENST00000569930.1:n.2377del
NM_000548.3:c.5262del , LRG_487t1:c.5262del	NP_000539.2:p.Cys1755AlafsTer?
NM_001077183.1:c.5061del	NP_001070651.1:p.Cys1688AlafsTer?
NM_001114382.1:c.5193del	NP_001107854.1:p.Cys1732AlafsTer?
XM_005255529.3:c.5133del	XP_005255586.2:p.Cys1712AlafsTer?
XM_005255531.3:c.5064del	XP_005255588.2:p.Cys1689AlafsTer?
XM_011522636.1:c.5316del	XP_011520938.1:p.Cys1773AlafsTer?
XM_011522637.1:c.5313del	XP_011520939.1:p.Cys1772AlafsTer?
XM_011522638.1:c.5205del	XP_011520940.1:p.Cys1736AlafsTer?
XM_011522639.1:c.5187del	XP_011520941.1:p.Cys1730AlafsTer?
XM_011522640.1:c.5184del	XP_011520942.1:p.Cys1729AlafsTer?
XM_011522641.1:c.4953del	XP_011520943.1:p.Cys1652AlafsTer?
NM_000548.4:c.5262del	NP_000539.2:p.Cys1755AlafsTer?
NM_001077183.2:c.5061del	NP_001070651.1:p.Cys1688AlafsTer?
NM_001114382.2:c.5193del	NP_001107854.1:p.Cys1732AlafsTer?
NM_001318827.1:c.4953del	NP_001305756.1:p.Cys1652AlafsTer?
NM_001318829.1:c.4917del	NP_001305758.1:p.Cys1640AlafsTer?
NM_001318831.1:c.4530del	NP_001305760.1:p.Cys1511AlafsTer?
NM_001318832.1:c.5094del	NP_001305761.1:p.Cys1699AlafsTer?
NM_001363528.1:c.5064del	NP_001350457.1:p.Cys1689AlafsTer?
NM_021055.2:c.5133del	NP_066399.2:p.Cys1712AlafsTer?
XM_005255531.4:c.5064del	XP_005255588.2:p.Cys1689AlafsTer?
XM_011522636.2:c.5316del	XP_011520938.1:p.Cys1773AlafsTer?
XM_011522637.2:c.5313del	XP_011520939.1:p.Cys1772AlafsTer?
XM_011522638.2:c.5478del	XP_011520940.2:p.Cys1827AlafsTer?
XM_011522639.2:c.5187del	XP_011520941.1:p.Cys1730AlafsTer?
XM_011522640.2:c.5184del	XP_011520942.1:p.Cys1729AlafsTer?
XM_017023615.1:c.5259del	XP_016879104.1:p.Cys1754AlafsTer?
XM_017023616.1:c.5130del	XP_016879105.1:p.Cys1711AlafsTer?
XM_017023617.1:c.5226del	XP_016879106.1:p.Cys1743AlafsTer?
XM_017023618.1:c.3972del	XP_016879107.1:p.Cys1325AlafsTer?
XM_024450413.1:c.5148del	XP_024306181.1:p.Cys1717AlafsTer?
NM_000548.5:c.5262del MANE Select	NP_000539.2:p.Cys1755AlafsTer?
NM_001370404.1:c.5130del	NP_001357333.1:p.Cys1711AlafsTer?
NM_001370405.1:c.5121del	NP_001357334.1:p.Cys1708AlafsTer?
NM_001077183.3:c.5061del	NP_001070651.1:p.Cys1688AlafsTer?
NM_001114382.3:c.5193del	NP_001107854.1:p.Cys1732AlafsTer?
NM_001318827.2:c.4953del	NP_001305756.1:p.Cys1652AlafsTer?
NM_001318829.2:c.4917del	NP_001305758.1:p.Cys1640AlafsTer?
NM_001318831.2:c.4530del	NP_001305760.1:p.Cys1511AlafsTer?
NM_001318832.2:c.5094del	NP_001305761.1:p.Cys1699AlafsTer?
NM_001363528.2:c.5064del	NP_001350457.1:p.Cys1689AlafsTer?
NM_021055.3:c.5133del	NP_066399.2:p.Cys1712AlafsTer?