Canonical Allele Identifier: CA051943

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2849258
• ClinVar RCV Id: RCV003628518
• dbSNP Id: rs765688277
• ExAC: 16:2135272 C / T
• gnomAD v4: 16-2085271-C-T
• MyVariant Identifiers: chr16:g.2135272C>T (hg19) ; chr16:g.2085271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085271C>T , CM000678.2:g.2085271C>T	GRCh38
NC_000016.9:g.2135272C>T , CM000678.1:g.2135272C>T	GRCh37
NC_000016.8:g.2075273C>T	NCBI36
NG_005895.1:g.40966C>T , LRG_487:g.40966C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2960C>T	ENSP00000455997.2:n.*2960C>T
ENST00000642206.2:c.4458C>T	ENSP00000495146.2:p.Ile1486=
ENST00000642365.2:c.4608C>T	ENSP00000495459.2:p.Ile1536=
ENST00000644417.2:c.*4991C>T	ENSP00000493912.2:n.*4991C>T
ENST00000646464.2:c.*7360C>T	ENSP00000496610.2:n.*7360C>T
ENST00000219476.9:c.4611C>T MANE Select	ENSP00000219476.3:p.Ile1537=
ENST00000350773.9:c.4542C>T	ENSP00000344383.4:p.Ile1514=
ENST00000401874.7:c.4410C>T	ENSP00000384468.2:p.Ile1470=
ENST00000568454.6:c.4443C>T	ENSP00000454487.1:p.Ile1481=
ENST00000569110.2:c.834C>T
ENST00000569930.2:n.2493C>T
ENST00000642365.1:c.3265C>T
ENST00000642561.1:c.4482C>T	ENSP00000495099.1:p.Ile1494=
ENST00000642728.1:n.793C>T
ENST00000642791.1:n.208C>T
ENST00000642797.1:c.4413C>T	ENSP00000493846.1:p.Ile1471=
ENST00000642936.1:c.4479C>T	ENSP00000494514.1:p.Ile1493=
ENST00000643088.1:c.4404C>T	ENSP00000494747.1:p.Ile1468=
ENST00000643177.1:n.625C>T
ENST00000643426.1:n.2259C>T
ENST00000643946.1:c.4536C>T	ENSP00000495927.1:p.Ile1512=
ENST00000644043.1:c.4482C>T	ENSP00000496262.1:p.Ile1494=
ENST00000644278.1:n.93C>T
ENST00000644329.1:c.4410C>T	ENSP00000496611.1:p.Ile1470=
ENST00000644335.1:c.4407C>T	ENSP00000496317.1:p.Ile1469=
ENST00000644399.1:c.4532C>T
ENST00000645024.1:n.2695C>T
ENST00000646388.1:c.4605C>T	ENSP00000495921.1:p.Ile1535=
ENST00000646634.1:n.3426C>T
ENST00000646674.1:n.1863C>T
ENST00000647042.1:n.1834C>T
ENST00000647180.1:n.1724C>T
ENST00000219476.7:c.4611C>T	ENSP00000219476.3:p.Ile1537=
ENST00000350773.8:c.4542C>T	ENSP00000344383.4:p.Ile1514=
ENST00000382538.10:c.4266C>T	ENSP00000371978.6:p.Ile1422=
ENST00000401874.6:c.4410C>T	ENSP00000384468.2:p.Ile1470=
ENST00000439117.6:c.*3778C>T	ENSP00000406980.2:n.*3778C>T
ENST00000439673.6:c.4302C>T	ENSP00000399232.2:p.Ile1434=
ENST00000497886.5:n.2369C>T
ENST00000568454.5:c.4443C>T	ENSP00000454487.1:p.Ile1481=
ENST00000569110.1:c.793C>T
ENST00000569930.1:n.1726C>T
NM_000548.3:c.4611C>T , LRG_487t1:c.4611C>T	NP_000539.2:p.Ile1537=
NM_001077183.1:c.4410C>T	NP_001070651.1:p.Ile1470=
NM_001114382.1:c.4542C>T	NP_001107854.1:p.Ile1514=
XM_005255529.3:c.4482C>T	XP_005255586.2:p.Ile1494=
XM_005255531.3:c.4413C>T	XP_005255588.2:p.Ile1471=
XM_011522636.1:c.4665C>T	XP_011520938.1:p.Ile1555=
XM_011522637.1:c.4662C>T	XP_011520939.1:p.Ile1554=
XM_011522638.1:c.4554C>T	XP_011520940.1:p.Ile1518=
XM_011522639.1:c.4536C>T	XP_011520941.1:p.Ile1512=
XM_011522640.1:c.4533C>T	XP_011520942.1:p.Ile1511=
XM_011522641.1:c.4302C>T	XP_011520943.1:p.Ile1434=
NM_000548.4:c.4611C>T	NP_000539.2:p.Ile1537=
NM_001077183.2:c.4410C>T	NP_001070651.1:p.Ile1470=
NM_001114382.2:c.4542C>T	NP_001107854.1:p.Ile1514=
NM_001318827.1:c.4302C>T	NP_001305756.1:p.Ile1434=
NM_001318829.1:c.4266C>T	NP_001305758.1:p.Ile1422=
NM_001318831.1:c.3879C>T	NP_001305760.1:p.Ile1293=
NM_001318832.1:c.4443C>T	NP_001305761.1:p.Ile1481=
NM_001363528.1:c.4413C>T	NP_001350457.1:p.Ile1471=
NM_021055.2:c.4482C>T	NP_066399.2:p.Ile1494=
XM_005255531.4:c.4413C>T	XP_005255588.2:p.Ile1471=
XM_011522636.2:c.4665C>T	XP_011520938.1:p.Ile1555=
XM_011522637.2:c.4662C>T	XP_011520939.1:p.Ile1554=
XM_011522638.2:c.4827C>T	XP_011520940.2:p.Ile1609=
XM_011522639.2:c.4536C>T	XP_011520941.1:p.Ile1512=
XM_011522640.2:c.4533C>T	XP_011520942.1:p.Ile1511=
XM_017023615.1:c.4608C>T	XP_016879104.1:p.Ile1536=
XM_017023616.1:c.4479C>T	XP_016879105.1:p.Ile1493=
XM_017023617.1:c.4575C>T	XP_016879106.1:p.Ile1525=
XM_017023618.1:c.3321C>T	XP_016879107.1:p.Ile1107=
XM_024450413.1:c.4410C>T	XP_024306181.1:p.Ile1470=
NM_000548.5:c.4611C>T MANE Select	NP_000539.2:p.Ile1537=
NM_001370404.1:c.4479C>T	NP_001357333.1:p.Ile1493=
NM_001370405.1:c.4482C>T	NP_001357334.1:p.Ile1494=
NM_001077183.3:c.4410C>T	NP_001070651.1:p.Ile1470=
NM_001114382.3:c.4542C>T	NP_001107854.1:p.Ile1514=
NM_001318827.2:c.4302C>T	NP_001305756.1:p.Ile1434=
NM_001318829.2:c.4266C>T	NP_001305758.1:p.Ile1422=
NM_001318831.2:c.3879C>T	NP_001305760.1:p.Ile1293=
NM_001318832.2:c.4443C>T	NP_001305761.1:p.Ile1481=
NM_001363528.2:c.4413C>T	NP_001350457.1:p.Ile1471=
NM_021055.3:c.4482C>T	NP_066399.2:p.Ile1494=