Canonical Allele Identifier: CA394314394

Gene: TSC2

Linked Data

• dbSNP Id: rs2151630518
• MyVariant Identifiers: chr16:g.2138280C>T (hg19) ; chr16:g.2088279C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088279C>T , CM000678.2:g.2088279C>T	GRCh38
NC_000016.9:g.2138280C>T , CM000678.1:g.2138280C>T	GRCh37
NC_000016.8:g.2078281C>T	NCBI36
NG_005895.1:g.43974C>T , LRG_487:g.43974C>T
NG_008617.1:g.54942G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3562C>T	ENSP00000455997.2:n.*3562C>T
ENST00000642206.2:c.5060C>T	ENSP00000495146.2:p.Ser1687Phe
ENST00000642365.2:c.5210C>T	ENSP00000495459.2:p.Ser1737Phe
ENST00000644417.2:c.*5726C>T	ENSP00000493912.2:n.*5726C>T
ENST00000646464.2:c.*7962C>T	ENSP00000496610.2:n.*7962C>T
ENST00000219476.9:c.5213C>T MANE Select	ENSP00000219476.3:p.Ser1738Phe
ENST00000350773.9:c.5144C>T	ENSP00000344383.4:p.Ser1715Phe
ENST00000401874.7:c.5012C>T	ENSP00000384468.2:p.Ser1671Phe
ENST00000568454.6:c.5045C>T	ENSP00000454487.1:p.Ser1682Phe
ENST00000569110.2:c.1436C>T
ENST00000569930.2:n.3095C>T
ENST00000642365.1:c.3867C>T
ENST00000642561.1:c.5072C>T	ENSP00000495099.1:p.Ser1691Phe
ENST00000642791.1:n.810C>T
ENST00000642797.1:c.5015C>T	ENSP00000493846.1:p.Ser1672Phe
ENST00000642936.1:c.5081C>T	ENSP00000494514.1:p.Ser1694Phe
ENST00000643088.1:c.5006C>T	ENSP00000494747.1:p.Ser1669Phe
ENST00000643426.1:n.2861C>T
ENST00000643946.1:c.5138C>T	ENSP00000495927.1:p.Ser1713Phe
ENST00000644043.1:c.5084C>T	ENSP00000496262.1:p.Ser1695Phe
ENST00000644329.1:c.5099C>T	ENSP00000496611.1:p.Ser1700Phe
ENST00000644335.1:c.5009C>T	ENSP00000496317.1:p.Ser1670Phe
ENST00000644399.1:c.5134C>T
ENST00000645024.1:n.3297C>T
ENST00000646388.1:c.5207C>T	ENSP00000495921.1:p.Ser1736Phe
ENST00000646634.1:n.4028C>T
ENST00000646674.1:n.2465C>T
ENST00000647042.1:n.2436C>T
ENST00000647180.1:n.2326C>T
ENST00000219476.7:c.5213C>T	ENSP00000219476.3:p.Ser1738Phe
ENST00000350773.8:c.5144C>T	ENSP00000344383.4:p.Ser1715Phe
ENST00000382538.10:c.4868C>T	ENSP00000371978.6:p.Ser1623Phe
ENST00000401874.6:c.5012C>T	ENSP00000384468.2:p.Ser1671Phe
ENST00000439117.6:c.*4380C>T	ENSP00000406980.2:n.*4380C>T
ENST00000439673.6:c.4904C>T	ENSP00000399232.2:p.Ser1635Phe
ENST00000497886.5:n.2936C>T
ENST00000568454.5:c.5045C>T	ENSP00000454487.1:p.Ser1682Phe
ENST00000569110.1:c.1395C>T
ENST00000569930.1:n.2328C>T
NM_000548.3:c.5213C>T , LRG_487t1:c.5213C>T	NP_000539.2:p.Ser1738Phe
NM_001077183.1:c.5012C>T	NP_001070651.1:p.Ser1671Phe
NM_001114382.1:c.5144C>T	NP_001107854.1:p.Ser1715Phe
XM_005255529.3:c.5084C>T	XP_005255586.2:p.Ser1695Phe
XM_005255531.3:c.5015C>T	XP_005255588.2:p.Ser1672Phe
XM_011522636.1:c.5267C>T	XP_011520938.1:p.Ser1756Phe
XM_011522637.1:c.5264C>T	XP_011520939.1:p.Ser1755Phe
XM_011522638.1:c.5156C>T	XP_011520940.1:p.Ser1719Phe
XM_011522639.1:c.5138C>T	XP_011520941.1:p.Ser1713Phe
XM_011522640.1:c.5135C>T	XP_011520942.1:p.Ser1712Phe
XM_011522641.1:c.4904C>T	XP_011520943.1:p.Ser1635Phe
NM_000548.4:c.5213C>T	NP_000539.2:p.Ser1738Phe
NM_001077183.2:c.5012C>T	NP_001070651.1:p.Ser1671Phe
NM_001114382.2:c.5144C>T	NP_001107854.1:p.Ser1715Phe
NM_001318827.1:c.4904C>T	NP_001305756.1:p.Ser1635Phe
NM_001318829.1:c.4868C>T	NP_001305758.1:p.Ser1623Phe
NM_001318831.1:c.4481C>T	NP_001305760.1:p.Ser1494Phe
NM_001318832.1:c.5045C>T	NP_001305761.1:p.Ser1682Phe
NM_001363528.1:c.5015C>T	NP_001350457.1:p.Ser1672Phe
NM_021055.2:c.5084C>T	NP_066399.2:p.Ser1695Phe
XM_005255531.4:c.5015C>T	XP_005255588.2:p.Ser1672Phe
XM_011522636.2:c.5267C>T	XP_011520938.1:p.Ser1756Phe
XM_011522637.2:c.5264C>T	XP_011520939.1:p.Ser1755Phe
XM_011522638.2:c.5429C>T	XP_011520940.2:p.Ser1810Phe
XM_011522639.2:c.5138C>T	XP_011520941.1:p.Ser1713Phe
XM_011522640.2:c.5135C>T	XP_011520942.1:p.Ser1712Phe
XM_017023615.1:c.5210C>T	XP_016879104.1:p.Ser1737Phe
XM_017023616.1:c.5081C>T	XP_016879105.1:p.Ser1694Phe
XM_017023617.1:c.5177C>T	XP_016879106.1:p.Ser1726Phe
XM_017023618.1:c.3923C>T	XP_016879107.1:p.Ser1308Phe
XM_024450413.1:c.5099C>T	XP_024306181.1:p.Ser1700Phe
NM_000548.5:c.5213C>T MANE Select	NP_000539.2:p.Ser1738Phe
NM_001370404.1:c.5081C>T	NP_001357333.1:p.Ser1694Phe
NM_001370405.1:c.5072C>T	NP_001357334.1:p.Ser1691Phe
NM_001077183.3:c.5012C>T	NP_001070651.1:p.Ser1671Phe
NM_001114382.3:c.5144C>T	NP_001107854.1:p.Ser1715Phe
NM_001318827.2:c.4904C>T	NP_001305756.1:p.Ser1635Phe
NM_001318829.2:c.4868C>T	NP_001305758.1:p.Ser1623Phe
NM_001318831.2:c.4481C>T	NP_001305760.1:p.Ser1494Phe
NM_001318832.2:c.5045C>T	NP_001305761.1:p.Ser1682Phe
NM_001363528.2:c.5015C>T	NP_001350457.1:p.Ser1672Phe
NM_021055.3:c.5084C>T	NP_066399.2:p.Ser1695Phe