Canonical Allele Identifier: CA022102

Gene: TSC2

Linked Data

• ClinVar Variation Id: 64966
• ClinVar RCV Id: RCV000055169
• dbSNP Id: rs397514973
• MyVariant Identifiers: chr16:g.2138259del (hg19) ; chr16:g.2088258del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088258del , CM000678.2:g.2088258del	GRCh38
NC_000016.9:g.2138259del , CM000678.1:g.2138259del	GRCh37
NC_000016.8:g.2078260del	NCBI36
NG_005895.1:g.43953del , LRG_487:g.43953del
NG_008617.1:g.54964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3541del	ENSP00000455997.2:n.*3541del
ENST00000642206.2:c.5039del	ENSP00000495146.2:p.Asn1680ThrfsTer?
ENST00000642365.2:c.5189del	ENSP00000495459.2:p.Asn1730ThrfsTer?
ENST00000644417.2:c.*5705del	ENSP00000493912.2:n.*5705del
ENST00000646464.2:c.*7941del	ENSP00000496610.2:n.*7941del
ENST00000219476.9:c.5192del MANE Select	ENSP00000219476.3:p.Asn1731ThrfsTer?
ENST00000350773.9:c.5123del	ENSP00000344383.4:p.Asn1708ThrfsTer?
ENST00000401874.7:c.4991del	ENSP00000384468.2:p.Asn1664ThrfsTer?
ENST00000568454.6:c.5024del	ENSP00000454487.1:p.Asn1675ThrfsTer?
ENST00000569110.2:c.1415del
ENST00000569930.2:n.3074del
ENST00000642365.1:c.3846del
ENST00000642561.1:c.5051del	ENSP00000495099.1:p.Asn1684ThrfsTer?
ENST00000642791.1:n.789del
ENST00000642797.1:c.4994del	ENSP00000493846.1:p.Asn1665ThrfsTer?
ENST00000642936.1:c.5060del	ENSP00000494514.1:p.Asn1687ThrfsTer?
ENST00000643088.1:c.4985del	ENSP00000494747.1:p.Asn1662ThrfsTer?
ENST00000643426.1:n.2840del
ENST00000643946.1:c.5117del	ENSP00000495927.1:p.Asn1706ThrfsTer?
ENST00000644043.1:c.5063del	ENSP00000496262.1:p.Asn1688ThrfsTer?
ENST00000644329.1:c.5078del	ENSP00000496611.1:p.Asn1693ThrfsTer?
ENST00000644335.1:c.4988del	ENSP00000496317.1:p.Asn1663ThrfsTer?
ENST00000644399.1:c.5113del
ENST00000645024.1:n.3276del
ENST00000646388.1:c.5186del	ENSP00000495921.1:p.Asn1729ThrfsTer?
ENST00000646634.1:n.4007del
ENST00000646674.1:n.2444del
ENST00000647042.1:n.2415del
ENST00000647180.1:n.2305del
ENST00000219476.7:c.5192del	ENSP00000219476.3:p.Asn1731ThrfsTer?
ENST00000350773.8:c.5123del	ENSP00000344383.4:p.Asn1708ThrfsTer?
ENST00000382538.10:c.4847del	ENSP00000371978.6:p.Asn1616ThrfsTer?
ENST00000401874.6:c.4991del	ENSP00000384468.2:p.Asn1664ThrfsTer?
ENST00000439117.6:c.*4359del	ENSP00000406980.2:n.*4359del
ENST00000439673.6:c.4883del	ENSP00000399232.2:p.Asn1628ThrfsTer?
ENST00000497886.5:n.2915del
ENST00000568454.5:c.5024del	ENSP00000454487.1:p.Asn1675ThrfsTer?
ENST00000569110.1:c.1374del
ENST00000569930.1:n.2307del
NM_000548.3:c.5192del , LRG_487t1:c.5192del	NP_000539.2:p.Asn1731ThrfsTer?
NM_001077183.1:c.4991del	NP_001070651.1:p.Asn1664ThrfsTer?
NM_001114382.1:c.5123del	NP_001107854.1:p.Asn1708ThrfsTer?
XM_005255529.3:c.5063del	XP_005255586.2:p.Asn1688ThrfsTer?
XM_005255531.3:c.4994del	XP_005255588.2:p.Asn1665ThrfsTer?
XM_011522636.1:c.5246del	XP_011520938.1:p.Asn1749ThrfsTer?
XM_011522637.1:c.5243del	XP_011520939.1:p.Asn1748ThrfsTer?
XM_011522638.1:c.5135del	XP_011520940.1:p.Asn1712ThrfsTer?
XM_011522639.1:c.5117del	XP_011520941.1:p.Asn1706ThrfsTer?
XM_011522640.1:c.5114del	XP_011520942.1:p.Asn1705ThrfsTer?
XM_011522641.1:c.4883del	XP_011520943.1:p.Asn1628ThrfsTer?
NM_000548.4:c.5192del	NP_000539.2:p.Asn1731ThrfsTer?
NM_001077183.2:c.4991del	NP_001070651.1:p.Asn1664ThrfsTer?
NM_001114382.2:c.5123del	NP_001107854.1:p.Asn1708ThrfsTer?
NM_001318827.1:c.4883del	NP_001305756.1:p.Asn1628ThrfsTer?
NM_001318829.1:c.4847del	NP_001305758.1:p.Asn1616ThrfsTer?
NM_001318831.1:c.4460del	NP_001305760.1:p.Asn1487ThrfsTer?
NM_001318832.1:c.5024del	NP_001305761.1:p.Asn1675ThrfsTer?
NM_001363528.1:c.4994del	NP_001350457.1:p.Asn1665ThrfsTer?
NM_021055.2:c.5063del	NP_066399.2:p.Asn1688ThrfsTer?
XM_005255531.4:c.4994del	XP_005255588.2:p.Asn1665ThrfsTer?
XM_011522636.2:c.5246del	XP_011520938.1:p.Asn1749ThrfsTer?
XM_011522637.2:c.5243del	XP_011520939.1:p.Asn1748ThrfsTer?
XM_011522638.2:c.5408del	XP_011520940.2:p.Asn1803ThrfsTer?
XM_011522639.2:c.5117del	XP_011520941.1:p.Asn1706ThrfsTer?
XM_011522640.2:c.5114del	XP_011520942.1:p.Asn1705ThrfsTer?
XM_017023615.1:c.5189del	XP_016879104.1:p.Asn1730ThrfsTer?
XM_017023616.1:c.5060del	XP_016879105.1:p.Asn1687ThrfsTer?
XM_017023617.1:c.5156del	XP_016879106.1:p.Asn1719ThrfsTer?
XM_017023618.1:c.3902del	XP_016879107.1:p.Asn1301ThrfsTer?
XM_024450413.1:c.5078del	XP_024306181.1:p.Asn1693ThrfsTer?
NM_000548.5:c.5192del MANE Select	NP_000539.2:p.Asn1731ThrfsTer?
NM_001370404.1:c.5060del	NP_001357333.1:p.Asn1687ThrfsTer?
NM_001370405.1:c.5051del	NP_001357334.1:p.Asn1684ThrfsTer?
NM_001077183.3:c.4991del	NP_001070651.1:p.Asn1664ThrfsTer?
NM_001114382.3:c.5123del	NP_001107854.1:p.Asn1708ThrfsTer?
NM_001318827.2:c.4883del	NP_001305756.1:p.Asn1628ThrfsTer?
NM_001318829.2:c.4847del	NP_001305758.1:p.Asn1616ThrfsTer?
NM_001318831.2:c.4460del	NP_001305760.1:p.Asn1487ThrfsTer?
NM_001318832.2:c.5024del	NP_001305761.1:p.Asn1675ThrfsTer?
NM_001363528.2:c.4994del	NP_001350457.1:p.Asn1665ThrfsTer?
NM_021055.3:c.5063del	NP_066399.2:p.Asn1688ThrfsTer?