Canonical Allele Identifier: CA022105

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49951
• ClinVar RCV Id: RCV000043218
• dbSNP Id: rs137854400
• MyVariant Identifiers: chr16:g.2138262_2138263insTGCA (hg19) ; chr16:g.2088261_2088262insTGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088261_2088262insTGCA , CM000678.2:g.2088261_2088262insTGCA	GRCh38
NC_000016.9:g.2138262_2138263insTGCA , CM000678.1:g.2138262_2138263insTGCA	GRCh37
NC_000016.8:g.2078263_2078264insTGCA	NCBI36
NG_005895.1:g.43956_43957insTGCA , LRG_487:g.43956_43957insTGCA
NG_008617.1:g.54959_54960insTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3544_*3545insTGCA	ENSP00000455997.2:n.*3544_*3545insTGCA
ENST00000642206.2:c.5042_5043insTGCA	ENSP00000495146.2:p.Thr1682AlafsTer?
ENST00000642365.2:c.5192_5193insTGCA	ENSP00000495459.2:p.Thr1732AlafsTer?
ENST00000644417.2:c.*5708_*5709insTGCA	ENSP00000493912.2:n.*5708_*5709insTGCA
ENST00000646464.2:c.*7944_*7945insTGCA	ENSP00000496610.2:n.*7944_*7945insTGCA
ENST00000219476.9:c.5195_5196insTGCA MANE Select	ENSP00000219476.3:p.Thr1733AlafsTer?
ENST00000350773.9:c.5126_5127insTGCA	ENSP00000344383.4:p.Thr1710AlafsTer?
ENST00000401874.7:c.4994_4995insTGCA	ENSP00000384468.2:p.Thr1666AlafsTer?
ENST00000568454.6:c.5027_5028insTGCA	ENSP00000454487.1:p.Thr1677AlafsTer?
ENST00000569110.2:c.1418_1419insTGCA
ENST00000569930.2:n.3077_3078insTGCA
ENST00000642365.1:c.3849_3850insTGCA
ENST00000642561.1:c.5054_5055insTGCA	ENSP00000495099.1:p.Thr1686AlafsTer?
ENST00000642791.1:n.792_793insTGCA
ENST00000642797.1:c.4997_4998insTGCA	ENSP00000493846.1:p.Thr1667AlafsTer?
ENST00000642936.1:c.5063_5064insTGCA	ENSP00000494514.1:p.Thr1689AlafsTer?
ENST00000643088.1:c.4988_4989insTGCA	ENSP00000494747.1:p.Thr1664AlafsTer?
ENST00000643426.1:n.2843_2844insTGCA
ENST00000643946.1:c.5120_5121insTGCA	ENSP00000495927.1:p.Thr1708AlafsTer?
ENST00000644043.1:c.5066_5067insTGCA	ENSP00000496262.1:p.Thr1690AlafsTer?
ENST00000644329.1:c.5081_5082insTGCA	ENSP00000496611.1:p.Thr1695AlafsTer?
ENST00000644335.1:c.4991_4992insTGCA	ENSP00000496317.1:p.Thr1665AlafsTer?
ENST00000644399.1:c.5116_5117insTGCA
ENST00000645024.1:n.3279_3280insTGCA
ENST00000646388.1:c.5189_5190insTGCA	ENSP00000495921.1:p.Thr1731AlafsTer?
ENST00000646634.1:n.4010_4011insTGCA
ENST00000646674.1:n.2447_2448insTGCA
ENST00000647042.1:n.2418_2419insTGCA
ENST00000647180.1:n.2308_2309insTGCA
ENST00000219476.7:c.5195_5196insTGCA	ENSP00000219476.3:p.Thr1733AlafsTer?
ENST00000350773.8:c.5126_5127insTGCA	ENSP00000344383.4:p.Thr1710AlafsTer?
ENST00000382538.10:c.4850_4851insTGCA	ENSP00000371978.6:p.Thr1618AlafsTer?
ENST00000401874.6:c.4994_4995insTGCA	ENSP00000384468.2:p.Thr1666AlafsTer?
ENST00000439117.6:c.*4362_*4363insTGCA	ENSP00000406980.2:n.*4362_*4363insTGCA
ENST00000439673.6:c.4886_4887insTGCA	ENSP00000399232.2:p.Thr1630AlafsTer?
ENST00000497886.5:n.2918_2919insTGCA
ENST00000568454.5:c.5027_5028insTGCA	ENSP00000454487.1:p.Thr1677AlafsTer?
ENST00000569110.1:c.1377_1378insTGCA
ENST00000569930.1:n.2310_2311insTGCA
NM_000548.3:c.5195_5196insTGCA , LRG_487t1:c.5195_5196insTGCA	NP_000539.2:p.Thr1733AlafsTer?
NM_001077183.1:c.4994_4995insTGCA	NP_001070651.1:p.Thr1666AlafsTer?
NM_001114382.1:c.5126_5127insTGCA	NP_001107854.1:p.Thr1710AlafsTer?
XM_005255529.3:c.5066_5067insTGCA	XP_005255586.2:p.Thr1690AlafsTer?
XM_005255531.3:c.4997_4998insTGCA	XP_005255588.2:p.Thr1667AlafsTer?
XM_011522636.1:c.5249_5250insTGCA	XP_011520938.1:p.Thr1751AlafsTer?
XM_011522637.1:c.5246_5247insTGCA	XP_011520939.1:p.Thr1750AlafsTer?
XM_011522638.1:c.5138_5139insTGCA	XP_011520940.1:p.Thr1714AlafsTer?
XM_011522639.1:c.5120_5121insTGCA	XP_011520941.1:p.Thr1708AlafsTer?
XM_011522640.1:c.5117_5118insTGCA	XP_011520942.1:p.Thr1707AlafsTer?
XM_011522641.1:c.4886_4887insTGCA	XP_011520943.1:p.Thr1630AlafsTer?
NM_000548.4:c.5195_5196insTGCA	NP_000539.2:p.Thr1733AlafsTer?
NM_001077183.2:c.4994_4995insTGCA	NP_001070651.1:p.Thr1666AlafsTer?
NM_001114382.2:c.5126_5127insTGCA	NP_001107854.1:p.Thr1710AlafsTer?
NM_001318827.1:c.4886_4887insTGCA	NP_001305756.1:p.Thr1630AlafsTer?
NM_001318829.1:c.4850_4851insTGCA	NP_001305758.1:p.Thr1618AlafsTer?
NM_001318831.1:c.4463_4464insTGCA	NP_001305760.1:p.Thr1489AlafsTer?
NM_001318832.1:c.5027_5028insTGCA	NP_001305761.1:p.Thr1677AlafsTer?
NM_001363528.1:c.4997_4998insTGCA	NP_001350457.1:p.Thr1667AlafsTer?
NM_021055.2:c.5066_5067insTGCA	NP_066399.2:p.Thr1690AlafsTer?
XM_005255531.4:c.4997_4998insTGCA	XP_005255588.2:p.Thr1667AlafsTer?
XM_011522636.2:c.5249_5250insTGCA	XP_011520938.1:p.Thr1751AlafsTer?
XM_011522637.2:c.5246_5247insTGCA	XP_011520939.1:p.Thr1750AlafsTer?
XM_011522638.2:c.5411_5412insTGCA	XP_011520940.2:p.Thr1805AlafsTer?
XM_011522639.2:c.5120_5121insTGCA	XP_011520941.1:p.Thr1708AlafsTer?
XM_011522640.2:c.5117_5118insTGCA	XP_011520942.1:p.Thr1707AlafsTer?
XM_017023615.1:c.5192_5193insTGCA	XP_016879104.1:p.Thr1732AlafsTer?
XM_017023616.1:c.5063_5064insTGCA	XP_016879105.1:p.Thr1689AlafsTer?
XM_017023617.1:c.5159_5160insTGCA	XP_016879106.1:p.Thr1721AlafsTer?
XM_017023618.1:c.3905_3906insTGCA	XP_016879107.1:p.Thr1303AlafsTer?
XM_024450413.1:c.5081_5082insTGCA	XP_024306181.1:p.Thr1695AlafsTer?
NM_000548.5:c.5195_5196insTGCA MANE Select	NP_000539.2:p.Thr1733AlafsTer?
NM_001370404.1:c.5063_5064insTGCA	NP_001357333.1:p.Thr1689AlafsTer?
NM_001370405.1:c.5054_5055insTGCA	NP_001357334.1:p.Thr1686AlafsTer?
NM_001077183.3:c.4994_4995insTGCA	NP_001070651.1:p.Thr1666AlafsTer?
NM_001114382.3:c.5126_5127insTGCA	NP_001107854.1:p.Thr1710AlafsTer?
NM_001318827.2:c.4886_4887insTGCA	NP_001305756.1:p.Thr1630AlafsTer?
NM_001318829.2:c.4850_4851insTGCA	NP_001305758.1:p.Thr1618AlafsTer?
NM_001318831.2:c.4463_4464insTGCA	NP_001305760.1:p.Thr1489AlafsTer?
NM_001318832.2:c.5027_5028insTGCA	NP_001305761.1:p.Thr1677AlafsTer?
NM_001363528.2:c.4997_4998insTGCA	NP_001350457.1:p.Thr1667AlafsTer?
NM_021055.3:c.5066_5067insTGCA	NP_066399.2:p.Thr1690AlafsTer?