Canonical Allele Identifier: CA020576

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49498
• ClinVar RCV Id: RCV000042758 ; RCV002250506
• dbSNP Id: rs45517349
• MyVariant Identifiers: chr16:g.2134967G>T (hg19) ; chr16:g.2084966G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084966G>T , CM000678.2:g.2084966G>T	GRCh38
NC_000016.9:g.2134967G>T , CM000678.1:g.2134967G>T	GRCh37
NC_000016.8:g.2074968G>T	NCBI36
NG_005895.1:g.40661G>T , LRG_487:g.40661G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2858G>T	ENSP00000455997.2:n.*2858G>T
ENST00000642206.2:c.4356G>T	ENSP00000495146.2:p.Gln1452His
ENST00000642365.2:c.4506G>T	ENSP00000495459.2:p.Gln1502His
ENST00000644417.2:c.*4889G>T	ENSP00000493912.2:n.*4889G>T
ENST00000646464.2:c.*7258G>T	ENSP00000496610.2:n.*7258G>T
ENST00000219476.9:c.4509G>T MANE Select	ENSP00000219476.3:p.Gln1503His
ENST00000350773.9:c.4440G>T	ENSP00000344383.4:p.Gln1480His
ENST00000401874.7:c.4308G>T	ENSP00000384468.2:p.Gln1436His
ENST00000568454.6:c.4341G>T	ENSP00000454487.1:p.Gln1447His
ENST00000569110.2:c.732G>T
ENST00000569930.2:n.2391G>T
ENST00000642365.1:c.3163G>T
ENST00000642561.1:c.4380G>T	ENSP00000495099.1:p.Gln1460His
ENST00000642728.1:n.691G>T
ENST00000642797.1:c.4311G>T	ENSP00000493846.1:p.Gln1437His
ENST00000642936.1:c.4377G>T	ENSP00000494514.1:p.Gln1459His
ENST00000643088.1:c.4308G>T	ENSP00000494747.1:p.Gln1436His
ENST00000643177.1:n.523G>T
ENST00000643426.1:n.2157G>T
ENST00000643946.1:c.4440G>T	ENSP00000495927.1:p.Gln1480His
ENST00000644043.1:c.4380G>T	ENSP00000496262.1:p.Gln1460His
ENST00000644329.1:c.4308G>T	ENSP00000496611.1:p.Gln1436His
ENST00000644335.1:c.4311G>T	ENSP00000496317.1:p.Gln1437His
ENST00000644399.1:c.4430G>T
ENST00000645024.1:n.2593G>T
ENST00000646388.1:c.4509G>T	ENSP00000495921.1:p.Gln1503His
ENST00000646634.1:n.3324G>T
ENST00000646674.1:n.1761G>T
ENST00000647042.1:n.1732G>T
ENST00000647180.1:n.1622G>T
ENST00000219476.7:c.4509G>T	ENSP00000219476.3:p.Gln1503His
ENST00000350773.8:c.4440G>T	ENSP00000344383.4:p.Gln1480His
ENST00000382538.10:c.4164G>T	ENSP00000371978.6:p.Gln1388His
ENST00000401874.6:c.4308G>T	ENSP00000384468.2:p.Gln1436His
ENST00000439117.6:c.*3676G>T	ENSP00000406980.2:n.*3676G>T
ENST00000439673.6:c.4200G>T	ENSP00000399232.2:p.Gln1400His
ENST00000497886.5:n.2267G>T
ENST00000568454.5:c.4341G>T	ENSP00000454487.1:p.Gln1447His
ENST00000569110.1:c.691G>T
ENST00000569930.1:n.1624G>T
NM_000548.3:c.4509G>T , LRG_487t1:c.4509G>T	NP_000539.2:p.Gln1503His
NM_001077183.1:c.4308G>T	NP_001070651.1:p.Gln1436His
NM_001114382.1:c.4440G>T	NP_001107854.1:p.Gln1480His
XM_005255529.3:c.4380G>T	XP_005255586.2:p.Gln1460His
XM_005255531.3:c.4311G>T	XP_005255588.2:p.Gln1437His
XM_011522636.1:c.4563G>T	XP_011520938.1:p.Gln1521His
XM_011522637.1:c.4560G>T	XP_011520939.1:p.Gln1520His
XM_011522638.1:c.4452G>T	XP_011520940.1:p.Gln1484His
XM_011522639.1:c.4434G>T	XP_011520941.1:p.Gln1478His
XM_011522640.1:c.4431G>T	XP_011520942.1:p.Gln1477His
XM_011522641.1:c.4200G>T	XP_011520943.1:p.Gln1400His
NM_000548.4:c.4509G>T	NP_000539.2:p.Gln1503His
NM_001077183.2:c.4308G>T	NP_001070651.1:p.Gln1436His
NM_001114382.2:c.4440G>T	NP_001107854.1:p.Gln1480His
NM_001318827.1:c.4200G>T	NP_001305756.1:p.Gln1400His
NM_001318829.1:c.4164G>T	NP_001305758.1:p.Gln1388His
NM_001318831.1:c.3777G>T	NP_001305760.1:p.Gln1259His
NM_001318832.1:c.4341G>T	NP_001305761.1:p.Gln1447His
NM_001363528.1:c.4311G>T	NP_001350457.1:p.Gln1437His
NM_021055.2:c.4380G>T	NP_066399.2:p.Gln1460His
XM_005255531.4:c.4311G>T	XP_005255588.2:p.Gln1437His
XM_011522636.2:c.4563G>T	XP_011520938.1:p.Gln1521His
XM_011522637.2:c.4560G>T	XP_011520939.1:p.Gln1520His
XM_011522638.2:c.4725G>T	XP_011520940.2:p.Gln1575His
XM_011522639.2:c.4434G>T	XP_011520941.1:p.Gln1478His
XM_011522640.2:c.4431G>T	XP_011520942.1:p.Gln1477His
XM_017023615.1:c.4506G>T	XP_016879104.1:p.Gln1502His
XM_017023616.1:c.4377G>T	XP_016879105.1:p.Gln1459His
XM_017023617.1:c.4473G>T	XP_016879106.1:p.Gln1491His
XM_017023618.1:c.3219G>T	XP_016879107.1:p.Gln1073His
XM_024450413.1:c.4308G>T	XP_024306181.1:p.Gln1436His
NM_000548.5:c.4509G>T MANE Select	NP_000539.2:p.Gln1503His
NM_001370404.1:c.4377G>T	NP_001357333.1:p.Gln1459His
NM_001370405.1:c.4380G>T	NP_001357334.1:p.Gln1460His
NM_001077183.3:c.4308G>T	NP_001070651.1:p.Gln1436His
NM_001114382.3:c.4440G>T	NP_001107854.1:p.Gln1480His
NM_001318827.2:c.4200G>T	NP_001305756.1:p.Gln1400His
NM_001318829.2:c.4164G>T	NP_001305758.1:p.Gln1388His
NM_001318831.2:c.3777G>T	NP_001305760.1:p.Gln1259His
NM_001318832.2:c.4341G>T	NP_001305761.1:p.Gln1447His
NM_001363528.2:c.4311G>T	NP_001350457.1:p.Gln1437His
NM_021055.3:c.4380G>T	NP_066399.2:p.Gln1460His