Canonical Allele Identifier: CA2631118547

Gene: TSC2

Linked Data

• gnomAD v4: 16-2088266-G-GAC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088267_2088268insCA , CM000678.2:g.2088267_2088268insCA	GRCh38
NC_000016.9:g.2138268_2138269insCA , CM000678.1:g.2138268_2138269insCA	GRCh37
NC_000016.8:g.2078269_2078270insCA	NCBI36
NG_005895.1:g.43962_43963insCA , LRG_487:g.43962_43963insCA
NG_008617.1:g.54954_54955insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3550_*3551insCA	ENSP00000455997.2:n.*3550_*3551insCA
ENST00000642206.2:c.5048_5049insCA	ENSP00000495146.2:p.Tyr1685SerfsTer?
ENST00000642365.2:c.5198_5199insCA	ENSP00000495459.2:p.Tyr1735SerfsTer?
ENST00000644417.2:c.*5714_*5715insCA	ENSP00000493912.2:n.*5714_*5715insCA
ENST00000646464.2:c.*7950_*7951insCA	ENSP00000496610.2:n.*7950_*7951insCA
ENST00000219476.9:c.5201_5202insCA MANE Select	ENSP00000219476.3:p.Tyr1736SerfsTer?
ENST00000350773.9:c.5132_5133insCA	ENSP00000344383.4:p.Tyr1713SerfsTer?
ENST00000401874.7:c.5000_5001insCA	ENSP00000384468.2:p.Tyr1669SerfsTer?
ENST00000568454.6:c.5033_5034insCA	ENSP00000454487.1:p.Tyr1680SerfsTer?
ENST00000569110.2:c.1424_1425insCA
ENST00000569930.2:n.3083_3084insCA
ENST00000642365.1:c.3855_3856insCA
ENST00000642561.1:c.5060_5061insCA	ENSP00000495099.1:p.Tyr1689SerfsTer?
ENST00000642791.1:n.798_799insCA
ENST00000642797.1:c.5003_5004insCA	ENSP00000493846.1:p.Tyr1670SerfsTer?
ENST00000642936.1:c.5069_5070insCA	ENSP00000494514.1:p.Tyr1692SerfsTer?
ENST00000643088.1:c.4994_4995insCA	ENSP00000494747.1:p.Tyr1667SerfsTer?
ENST00000643426.1:n.2849_2850insCA
ENST00000643946.1:c.5126_5127insCA	ENSP00000495927.1:p.Tyr1711SerfsTer?
ENST00000644043.1:c.5072_5073insCA	ENSP00000496262.1:p.Tyr1693SerfsTer?
ENST00000644329.1:c.5087_5088insCA	ENSP00000496611.1:p.Tyr1698SerfsTer?
ENST00000644335.1:c.4997_4998insCA	ENSP00000496317.1:p.Tyr1668SerfsTer?
ENST00000644399.1:c.5122_5123insCA
ENST00000645024.1:n.3285_3286insCA
ENST00000646388.1:c.5195_5196insCA	ENSP00000495921.1:p.Tyr1734SerfsTer?
ENST00000646634.1:n.4016_4017insCA
ENST00000646674.1:n.2453_2454insCA
ENST00000647042.1:n.2424_2425insCA
ENST00000647180.1:n.2314_2315insCA
ENST00000219476.7:c.5201_5202insCA	ENSP00000219476.3:p.Tyr1736SerfsTer?
ENST00000350773.8:c.5132_5133insCA	ENSP00000344383.4:p.Tyr1713SerfsTer?
ENST00000382538.10:c.4856_4857insCA	ENSP00000371978.6:p.Tyr1621SerfsTer?
ENST00000401874.6:c.5000_5001insCA	ENSP00000384468.2:p.Tyr1669SerfsTer?
ENST00000439117.6:c.*4368_*4369insCA	ENSP00000406980.2:n.*4368_*4369insCA
ENST00000439673.6:c.4892_4893insCA	ENSP00000399232.2:p.Tyr1633SerfsTer?
ENST00000497886.5:n.2924_2925insCA
ENST00000568454.5:c.5033_5034insCA	ENSP00000454487.1:p.Tyr1680SerfsTer?
ENST00000569110.1:c.1383_1384insCA
ENST00000569930.1:n.2316_2317insCA
NM_000548.3:c.5201_5202insCA , LRG_487t1:c.5201_5202insCA	NP_000539.2:p.Tyr1736SerfsTer?
NM_001077183.1:c.5000_5001insCA	NP_001070651.1:p.Tyr1669SerfsTer?
NM_001114382.1:c.5132_5133insCA	NP_001107854.1:p.Tyr1713SerfsTer?
XM_005255529.3:c.5072_5073insCA	XP_005255586.2:p.Tyr1693SerfsTer?
XM_005255531.3:c.5003_5004insCA	XP_005255588.2:p.Tyr1670SerfsTer?
XM_011522636.1:c.5255_5256insCA	XP_011520938.1:p.Tyr1754SerfsTer?
XM_011522637.1:c.5252_5253insCA	XP_011520939.1:p.Tyr1753SerfsTer?
XM_011522638.1:c.5144_5145insCA	XP_011520940.1:p.Tyr1717SerfsTer?
XM_011522639.1:c.5126_5127insCA	XP_011520941.1:p.Tyr1711SerfsTer?
XM_011522640.1:c.5123_5124insCA	XP_011520942.1:p.Tyr1710SerfsTer?
XM_011522641.1:c.4892_4893insCA	XP_011520943.1:p.Tyr1633SerfsTer?
NM_000548.4:c.5201_5202insCA	NP_000539.2:p.Tyr1736SerfsTer?
NM_001077183.2:c.5000_5001insCA	NP_001070651.1:p.Tyr1669SerfsTer?
NM_001114382.2:c.5132_5133insCA	NP_001107854.1:p.Tyr1713SerfsTer?
NM_001318827.1:c.4892_4893insCA	NP_001305756.1:p.Tyr1633SerfsTer?
NM_001318829.1:c.4856_4857insCA	NP_001305758.1:p.Tyr1621SerfsTer?
NM_001318831.1:c.4469_4470insCA	NP_001305760.1:p.Tyr1492SerfsTer?
NM_001318832.1:c.5033_5034insCA	NP_001305761.1:p.Tyr1680SerfsTer?
NM_001363528.1:c.5003_5004insCA	NP_001350457.1:p.Tyr1670SerfsTer?
NM_021055.2:c.5072_5073insCA	NP_066399.2:p.Tyr1693SerfsTer?
XM_005255531.4:c.5003_5004insCA	XP_005255588.2:p.Tyr1670SerfsTer?
XM_011522636.2:c.5255_5256insCA	XP_011520938.1:p.Tyr1754SerfsTer?
XM_011522637.2:c.5252_5253insCA	XP_011520939.1:p.Tyr1753SerfsTer?
XM_011522638.2:c.5417_5418insCA	XP_011520940.2:p.Tyr1808SerfsTer?
XM_011522639.2:c.5126_5127insCA	XP_011520941.1:p.Tyr1711SerfsTer?
XM_011522640.2:c.5123_5124insCA	XP_011520942.1:p.Tyr1710SerfsTer?
XM_017023615.1:c.5198_5199insCA	XP_016879104.1:p.Tyr1735SerfsTer?
XM_017023616.1:c.5069_5070insCA	XP_016879105.1:p.Tyr1692SerfsTer?
XM_017023617.1:c.5165_5166insCA	XP_016879106.1:p.Tyr1724SerfsTer?
XM_017023618.1:c.3911_3912insCA	XP_016879107.1:p.Tyr1306SerfsTer?
XM_024450413.1:c.5087_5088insCA	XP_024306181.1:p.Tyr1698SerfsTer?
NM_000548.5:c.5201_5202insCA MANE Select	NP_000539.2:p.Tyr1736SerfsTer?
NM_001370404.1:c.5069_5070insCA	NP_001357333.1:p.Tyr1692SerfsTer?
NM_001370405.1:c.5060_5061insCA	NP_001357334.1:p.Tyr1689SerfsTer?
NM_001077183.3:c.5000_5001insCA	NP_001070651.1:p.Tyr1669SerfsTer?
NM_001114382.3:c.5132_5133insCA	NP_001107854.1:p.Tyr1713SerfsTer?
NM_001318827.2:c.4892_4893insCA	NP_001305756.1:p.Tyr1633SerfsTer?
NM_001318829.2:c.4856_4857insCA	NP_001305758.1:p.Tyr1621SerfsTer?
NM_001318831.2:c.4469_4470insCA	NP_001305760.1:p.Tyr1492SerfsTer?
NM_001318832.2:c.5033_5034insCA	NP_001305761.1:p.Tyr1680SerfsTer?
NM_001363528.2:c.5003_5004insCA	NP_001350457.1:p.Tyr1670SerfsTer?
NM_021055.3:c.5072_5073insCA	NP_066399.2:p.Tyr1693SerfsTer?