Canonical Allele Identifier: CA620705067

Gene: TSC2

Linked Data

• dbSNP Id: rs1211652708
• gnomAD v2: 16-2138253-GCTCC-G
• gnomAD v3: 16-2088252-GCTCC-G
• gnomAD v4: 16-2088252-GCTCC-G
• MyVariant Identifiers: chr16:g.2138254_2138257del (hg19) ; chr16:g.2088253_2088256del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088253_2088256del , CM000678.2:g.2088253_2088256del	GRCh38
NC_000016.9:g.2138254_2138257del , CM000678.1:g.2138254_2138257del	GRCh37
NC_000016.8:g.2078255_2078258del	NCBI36
NG_005895.1:g.43948_43951del , LRG_487:g.43948_43951del
NG_008617.1:g.54965_54968del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3536_*3539del	ENSP00000455997.2:n.*3536_*3539del
ENST00000642206.2:c.5034_5037del	ENSP00000495146.2:p.Ser1679ThrfsTer?
ENST00000642365.2:c.5184_5187del	ENSP00000495459.2:p.Ser1729ThrfsTer?
ENST00000644417.2:c.*5700_*5703del	ENSP00000493912.2:n.*5700_*5703del
ENST00000646464.2:c.*7936_*7939del	ENSP00000496610.2:n.*7936_*7939del
ENST00000219476.9:c.5187_5190del MANE Select	ENSP00000219476.3:p.Ser1730ThrfsTer?
ENST00000350773.9:c.5118_5121del	ENSP00000344383.4:p.Ser1707ThrfsTer?
ENST00000401874.7:c.4986_4989del	ENSP00000384468.2:p.Ser1663ThrfsTer?
ENST00000568454.6:c.5019_5022del	ENSP00000454487.1:p.Ser1674ThrfsTer?
ENST00000569110.2:c.1410_1413del
ENST00000569930.2:n.3069_3072del
ENST00000642365.1:c.3841_3844del
ENST00000642561.1:c.5046_5049del	ENSP00000495099.1:p.Ser1683ThrfsTer?
ENST00000642791.1:n.784_787del
ENST00000642797.1:c.4989_4992del	ENSP00000493846.1:p.Ser1664ThrfsTer?
ENST00000642936.1:c.5055_5058del	ENSP00000494514.1:p.Ser1686ThrfsTer?
ENST00000643088.1:c.4980_4983del	ENSP00000494747.1:p.Ser1661ThrfsTer?
ENST00000643426.1:n.2835_2838del
ENST00000643946.1:c.5112_5115del	ENSP00000495927.1:p.Ser1705ThrfsTer?
ENST00000644043.1:c.5058_5061del	ENSP00000496262.1:p.Ser1687ThrfsTer?
ENST00000644329.1:c.5073_5076del	ENSP00000496611.1:p.Ser1692ThrfsTer?
ENST00000644335.1:c.4983_4986del	ENSP00000496317.1:p.Ser1662ThrfsTer?
ENST00000644399.1:c.5108_5111del
ENST00000645024.1:n.3271_3274del
ENST00000646388.1:c.5181_5184del	ENSP00000495921.1:p.Ser1728ThrfsTer?
ENST00000646634.1:n.4002_4005del
ENST00000646674.1:n.2439_2442del
ENST00000647042.1:n.2410_2413del
ENST00000647180.1:n.2300_2303del
ENST00000219476.7:c.5187_5190del	ENSP00000219476.3:p.Ser1730ThrfsTer?
ENST00000350773.8:c.5118_5121del	ENSP00000344383.4:p.Ser1707ThrfsTer?
ENST00000382538.10:c.4842_4845del	ENSP00000371978.6:p.Ser1615ThrfsTer?
ENST00000401874.6:c.4986_4989del	ENSP00000384468.2:p.Ser1663ThrfsTer?
ENST00000439117.6:c.*4354_*4357del	ENSP00000406980.2:n.*4354_*4357del
ENST00000439673.6:c.4878_4881del	ENSP00000399232.2:p.Ser1627ThrfsTer?
ENST00000497886.5:n.2910_2913del
ENST00000568454.5:c.5019_5022del	ENSP00000454487.1:p.Ser1674ThrfsTer?
ENST00000569110.1:c.1369_1372del
ENST00000569930.1:n.2302_2305del
NM_000548.3:c.5187_5190del , LRG_487t1:c.5187_5190del	NP_000539.2:p.Ser1730ThrfsTer?
NM_001077183.1:c.4986_4989del	NP_001070651.1:p.Ser1663ThrfsTer?
NM_001114382.1:c.5118_5121del	NP_001107854.1:p.Ser1707ThrfsTer?
XM_005255529.3:c.5058_5061del	XP_005255586.2:p.Ser1687ThrfsTer?
XM_005255531.3:c.4989_4992del	XP_005255588.2:p.Ser1664ThrfsTer?
XM_011522636.1:c.5241_5244del	XP_011520938.1:p.Ser1748ThrfsTer?
XM_011522637.1:c.5238_5241del	XP_011520939.1:p.Ser1747ThrfsTer?
XM_011522638.1:c.5130_5133del	XP_011520940.1:p.Ser1711ThrfsTer?
XM_011522639.1:c.5112_5115del	XP_011520941.1:p.Ser1705ThrfsTer?
XM_011522640.1:c.5109_5112del	XP_011520942.1:p.Ser1704ThrfsTer?
XM_011522641.1:c.4878_4881del	XP_011520943.1:p.Ser1627ThrfsTer?
NM_000548.4:c.5187_5190del	NP_000539.2:p.Ser1730ThrfsTer?
NM_001077183.2:c.4986_4989del	NP_001070651.1:p.Ser1663ThrfsTer?
NM_001114382.2:c.5118_5121del	NP_001107854.1:p.Ser1707ThrfsTer?
NM_001318827.1:c.4878_4881del	NP_001305756.1:p.Ser1627ThrfsTer?
NM_001318829.1:c.4842_4845del	NP_001305758.1:p.Ser1615ThrfsTer?
NM_001318831.1:c.4455_4458del	NP_001305760.1:p.Ser1486ThrfsTer?
NM_001318832.1:c.5019_5022del	NP_001305761.1:p.Ser1674ThrfsTer?
NM_001363528.1:c.4989_4992del	NP_001350457.1:p.Ser1664ThrfsTer?
NM_021055.2:c.5058_5061del	NP_066399.2:p.Ser1687ThrfsTer?
XM_005255531.4:c.4989_4992del	XP_005255588.2:p.Ser1664ThrfsTer?
XM_011522636.2:c.5241_5244del	XP_011520938.1:p.Ser1748ThrfsTer?
XM_011522637.2:c.5238_5241del	XP_011520939.1:p.Ser1747ThrfsTer?
XM_011522638.2:c.5403_5406del	XP_011520940.2:p.Ser1802ThrfsTer?
XM_011522639.2:c.5112_5115del	XP_011520941.1:p.Ser1705ThrfsTer?
XM_011522640.2:c.5109_5112del	XP_011520942.1:p.Ser1704ThrfsTer?
XM_017023615.1:c.5184_5187del	XP_016879104.1:p.Ser1729ThrfsTer?
XM_017023616.1:c.5055_5058del	XP_016879105.1:p.Ser1686ThrfsTer?
XM_017023617.1:c.5151_5154del	XP_016879106.1:p.Ser1718ThrfsTer?
XM_017023618.1:c.3897_3900del	XP_016879107.1:p.Ser1300ThrfsTer?
XM_024450413.1:c.5073_5076del	XP_024306181.1:p.Ser1692ThrfsTer?
NM_000548.5:c.5187_5190del MANE Select	NP_000539.2:p.Ser1730ThrfsTer?
NM_001370404.1:c.5055_5058del	NP_001357333.1:p.Ser1686ThrfsTer?
NM_001370405.1:c.5046_5049del	NP_001357334.1:p.Ser1683ThrfsTer?
NM_001077183.3:c.4986_4989del	NP_001070651.1:p.Ser1663ThrfsTer?
NM_001114382.3:c.5118_5121del	NP_001107854.1:p.Ser1707ThrfsTer?
NM_001318827.2:c.4878_4881del	NP_001305756.1:p.Ser1627ThrfsTer?
NM_001318829.2:c.4842_4845del	NP_001305758.1:p.Ser1615ThrfsTer?
NM_001318831.2:c.4455_4458del	NP_001305760.1:p.Ser1486ThrfsTer?
NM_001318832.2:c.5019_5022del	NP_001305761.1:p.Ser1674ThrfsTer?
NM_001363528.2:c.4989_4992del	NP_001350457.1:p.Ser1664ThrfsTer?
NM_021055.3:c.5058_5061del	NP_066399.2:p.Ser1687ThrfsTer?