Canonical Allele Identifier: CA020857

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49486
• ClinVar RCV Id: RCV000042746 ; RCV001232925
• dbSNP Id: rs137854880
• MyVariant Identifiers: chr16:g.2135323G>T (hg19) ; chr16:g.2085322G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085322G>T , CM000678.2:g.2085322G>T	GRCh38
NC_000016.9:g.2135323G>T , CM000678.1:g.2135323G>T	GRCh37
NC_000016.8:g.2075324G>T	NCBI36
NG_005895.1:g.41017G>T , LRG_487:g.41017G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3011G>T	ENSP00000455997.2:n.*3011G>T
ENST00000642206.2:c.4509G>T	ENSP00000495146.2:p.Gln1503His
ENST00000642365.2:c.4659G>T	ENSP00000495459.2:p.Gln1553His
ENST00000644417.2:c.*5042G>T	ENSP00000493912.2:n.*5042G>T
ENST00000646464.2:c.*7411G>T	ENSP00000496610.2:n.*7411G>T
ENST00000219476.9:c.4662G>T MANE Select	ENSP00000219476.3:p.Gln1554His
ENST00000350773.9:c.4593G>T	ENSP00000344383.4:p.Gln1531His
ENST00000401874.7:c.4461G>T	ENSP00000384468.2:p.Gln1487His
ENST00000568454.6:c.4494G>T	ENSP00000454487.1:p.Gln1498His
ENST00000569110.2:c.885G>T
ENST00000569930.2:n.2544G>T
ENST00000642365.1:c.3316G>T
ENST00000642561.1:c.4533G>T	ENSP00000495099.1:p.Gln1511His
ENST00000642728.1:n.844G>T
ENST00000642791.1:n.259G>T
ENST00000642797.1:c.4464G>T	ENSP00000493846.1:p.Gln1488His
ENST00000642936.1:c.4530G>T	ENSP00000494514.1:p.Gln1510His
ENST00000643088.1:c.4455G>T	ENSP00000494747.1:p.Gln1485His
ENST00000643177.1:n.676G>T
ENST00000643426.1:n.2310G>T
ENST00000643946.1:c.4587G>T	ENSP00000495927.1:p.Gln1529His
ENST00000644043.1:c.4533G>T	ENSP00000496262.1:p.Gln1511His
ENST00000644278.1:n.144G>T
ENST00000644329.1:c.4461G>T	ENSP00000496611.1:p.Gln1487His
ENST00000644335.1:c.4458G>T	ENSP00000496317.1:p.Gln1486His
ENST00000644399.1:c.4583G>T
ENST00000645024.1:n.2746G>T
ENST00000646388.1:c.4656G>T	ENSP00000495921.1:p.Gln1552His
ENST00000646634.1:n.3477G>T
ENST00000646674.1:n.1914G>T
ENST00000647042.1:n.1885G>T
ENST00000647180.1:n.1775G>T
ENST00000219476.7:c.4662G>T	ENSP00000219476.3:p.Gln1554His
ENST00000350773.8:c.4593G>T	ENSP00000344383.4:p.Gln1531His
ENST00000382538.10:c.4317G>T	ENSP00000371978.6:p.Gln1439His
ENST00000401874.6:c.4461G>T	ENSP00000384468.2:p.Gln1487His
ENST00000439117.6:c.*3829G>T	ENSP00000406980.2:n.*3829G>T
ENST00000439673.6:c.4353G>T	ENSP00000399232.2:p.Gln1451His
ENST00000497886.5:n.2420G>T
ENST00000568454.5:c.4494G>T	ENSP00000454487.1:p.Gln1498His
ENST00000569110.1:c.844G>T
ENST00000569930.1:n.1777G>T
NM_000548.3:c.4662G>T , LRG_487t1:c.4662G>T	NP_000539.2:p.Gln1554His
NM_001077183.1:c.4461G>T	NP_001070651.1:p.Gln1487His
NM_001114382.1:c.4593G>T	NP_001107854.1:p.Gln1531His
XM_005255529.3:c.4533G>T	XP_005255586.2:p.Gln1511His
XM_005255531.3:c.4464G>T	XP_005255588.2:p.Gln1488His
XM_011522636.1:c.4716G>T	XP_011520938.1:p.Gln1572His
XM_011522637.1:c.4713G>T	XP_011520939.1:p.Gln1571His
XM_011522638.1:c.4605G>T	XP_011520940.1:p.Gln1535His
XM_011522639.1:c.4587G>T	XP_011520941.1:p.Gln1529His
XM_011522640.1:c.4584G>T	XP_011520942.1:p.Gln1528His
XM_011522641.1:c.4353G>T	XP_011520943.1:p.Gln1451His
NM_000548.4:c.4662G>T	NP_000539.2:p.Gln1554His
NM_001077183.2:c.4461G>T	NP_001070651.1:p.Gln1487His
NM_001114382.2:c.4593G>T	NP_001107854.1:p.Gln1531His
NM_001318827.1:c.4353G>T	NP_001305756.1:p.Gln1451His
NM_001318829.1:c.4317G>T	NP_001305758.1:p.Gln1439His
NM_001318831.1:c.3930G>T	NP_001305760.1:p.Gln1310His
NM_001318832.1:c.4494G>T	NP_001305761.1:p.Gln1498His
NM_001363528.1:c.4464G>T	NP_001350457.1:p.Gln1488His
NM_021055.2:c.4533G>T	NP_066399.2:p.Gln1511His
XM_005255531.4:c.4464G>T	XP_005255588.2:p.Gln1488His
XM_011522636.2:c.4716G>T	XP_011520938.1:p.Gln1572His
XM_011522637.2:c.4713G>T	XP_011520939.1:p.Gln1571His
XM_011522638.2:c.4878G>T	XP_011520940.2:p.Gln1626His
XM_011522639.2:c.4587G>T	XP_011520941.1:p.Gln1529His
XM_011522640.2:c.4584G>T	XP_011520942.1:p.Gln1528His
XM_017023615.1:c.4659G>T	XP_016879104.1:p.Gln1553His
XM_017023616.1:c.4530G>T	XP_016879105.1:p.Gln1510His
XM_017023617.1:c.4626G>T	XP_016879106.1:p.Gln1542His
XM_017023618.1:c.3372G>T	XP_016879107.1:p.Gln1124His
XM_024450413.1:c.4461G>T	XP_024306181.1:p.Gln1487His
NM_000548.5:c.4662G>T MANE Select	NP_000539.2:p.Gln1554His
NM_001370404.1:c.4530G>T	NP_001357333.1:p.Gln1510His
NM_001370405.1:c.4533G>T	NP_001357334.1:p.Gln1511His
NM_001077183.3:c.4461G>T	NP_001070651.1:p.Gln1487His
NM_001114382.3:c.4593G>T	NP_001107854.1:p.Gln1531His
NM_001318827.2:c.4353G>T	NP_001305756.1:p.Gln1451His
NM_001318829.2:c.4317G>T	NP_001305758.1:p.Gln1439His
NM_001318831.2:c.3930G>T	NP_001305760.1:p.Gln1310His
NM_001318832.2:c.4494G>T	NP_001305761.1:p.Gln1498His
NM_001363528.2:c.4464G>T	NP_001350457.1:p.Gln1488His
NM_021055.3:c.4533G>T	NP_066399.2:p.Gln1511His