Canonical Allele Identifier: CA394314151

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2115345
• ClinVar RCV Id: RCV003046410
• dbSNP Id: rs2091134565
• gnomAD v3: 16-2088255-C-T
• gnomAD v4: 16-2088255-C-T
• MyVariant Identifiers: chr16:g.2138256C>T (hg19) ; chr16:g.2088255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088255C>T , CM000678.2:g.2088255C>T	GRCh38
NC_000016.9:g.2138256C>T , CM000678.1:g.2138256C>T	GRCh37
NC_000016.8:g.2078257C>T	NCBI36
NG_005895.1:g.43950C>T , LRG_487:g.43950C>T
NG_008617.1:g.54966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3538C>T	ENSP00000455997.2:n.*3538C>T
ENST00000642206.2:c.5036C>T	ENSP00000495146.2:p.Ser1679Phe
ENST00000642365.2:c.5186C>T	ENSP00000495459.2:p.Ser1729Phe
ENST00000644417.2:c.*5702C>T	ENSP00000493912.2:n.*5702C>T
ENST00000646464.2:c.*7938C>T	ENSP00000496610.2:n.*7938C>T
ENST00000219476.9:c.5189C>T MANE Select	ENSP00000219476.3:p.Ser1730Phe
ENST00000350773.9:c.5120C>T	ENSP00000344383.4:p.Ser1707Phe
ENST00000401874.7:c.4988C>T	ENSP00000384468.2:p.Ser1663Phe
ENST00000568454.6:c.5021C>T	ENSP00000454487.1:p.Ser1674Phe
ENST00000569110.2:c.1412C>T
ENST00000569930.2:n.3071C>T
ENST00000642365.1:c.3843C>T
ENST00000642561.1:c.5048C>T	ENSP00000495099.1:p.Ser1683Phe
ENST00000642791.1:n.786C>T
ENST00000642797.1:c.4991C>T	ENSP00000493846.1:p.Ser1664Phe
ENST00000642936.1:c.5057C>T	ENSP00000494514.1:p.Ser1686Phe
ENST00000643088.1:c.4982C>T	ENSP00000494747.1:p.Ser1661Phe
ENST00000643426.1:n.2837C>T
ENST00000643946.1:c.5114C>T	ENSP00000495927.1:p.Ser1705Phe
ENST00000644043.1:c.5060C>T	ENSP00000496262.1:p.Ser1687Phe
ENST00000644329.1:c.5075C>T	ENSP00000496611.1:p.Ser1692Phe
ENST00000644335.1:c.4985C>T	ENSP00000496317.1:p.Ser1662Phe
ENST00000644399.1:c.5110C>T
ENST00000645024.1:n.3273C>T
ENST00000646388.1:c.5183C>T	ENSP00000495921.1:p.Ser1728Phe
ENST00000646634.1:n.4004C>T
ENST00000646674.1:n.2441C>T
ENST00000647042.1:n.2412C>T
ENST00000647180.1:n.2302C>T
ENST00000219476.7:c.5189C>T	ENSP00000219476.3:p.Ser1730Phe
ENST00000350773.8:c.5120C>T	ENSP00000344383.4:p.Ser1707Phe
ENST00000382538.10:c.4844C>T	ENSP00000371978.6:p.Ser1615Phe
ENST00000401874.6:c.4988C>T	ENSP00000384468.2:p.Ser1663Phe
ENST00000439117.6:c.*4356C>T	ENSP00000406980.2:n.*4356C>T
ENST00000439673.6:c.4880C>T	ENSP00000399232.2:p.Ser1627Phe
ENST00000497886.5:n.2912C>T
ENST00000568454.5:c.5021C>T	ENSP00000454487.1:p.Ser1674Phe
ENST00000569110.1:c.1371C>T
ENST00000569930.1:n.2304C>T
NM_000548.3:c.5189C>T , LRG_487t1:c.5189C>T	NP_000539.2:p.Ser1730Phe
NM_001077183.1:c.4988C>T	NP_001070651.1:p.Ser1663Phe
NM_001114382.1:c.5120C>T	NP_001107854.1:p.Ser1707Phe
XM_005255529.3:c.5060C>T	XP_005255586.2:p.Ser1687Phe
XM_005255531.3:c.4991C>T	XP_005255588.2:p.Ser1664Phe
XM_011522636.1:c.5243C>T	XP_011520938.1:p.Ser1748Phe
XM_011522637.1:c.5240C>T	XP_011520939.1:p.Ser1747Phe
XM_011522638.1:c.5132C>T	XP_011520940.1:p.Ser1711Phe
XM_011522639.1:c.5114C>T	XP_011520941.1:p.Ser1705Phe
XM_011522640.1:c.5111C>T	XP_011520942.1:p.Ser1704Phe
XM_011522641.1:c.4880C>T	XP_011520943.1:p.Ser1627Phe
NM_000548.4:c.5189C>T	NP_000539.2:p.Ser1730Phe
NM_001077183.2:c.4988C>T	NP_001070651.1:p.Ser1663Phe
NM_001114382.2:c.5120C>T	NP_001107854.1:p.Ser1707Phe
NM_001318827.1:c.4880C>T	NP_001305756.1:p.Ser1627Phe
NM_001318829.1:c.4844C>T	NP_001305758.1:p.Ser1615Phe
NM_001318831.1:c.4457C>T	NP_001305760.1:p.Ser1486Phe
NM_001318832.1:c.5021C>T	NP_001305761.1:p.Ser1674Phe
NM_001363528.1:c.4991C>T	NP_001350457.1:p.Ser1664Phe
NM_021055.2:c.5060C>T	NP_066399.2:p.Ser1687Phe
XM_005255531.4:c.4991C>T	XP_005255588.2:p.Ser1664Phe
XM_011522636.2:c.5243C>T	XP_011520938.1:p.Ser1748Phe
XM_011522637.2:c.5240C>T	XP_011520939.1:p.Ser1747Phe
XM_011522638.2:c.5405C>T	XP_011520940.2:p.Ser1802Phe
XM_011522639.2:c.5114C>T	XP_011520941.1:p.Ser1705Phe
XM_011522640.2:c.5111C>T	XP_011520942.1:p.Ser1704Phe
XM_017023615.1:c.5186C>T	XP_016879104.1:p.Ser1729Phe
XM_017023616.1:c.5057C>T	XP_016879105.1:p.Ser1686Phe
XM_017023617.1:c.5153C>T	XP_016879106.1:p.Ser1718Phe
XM_017023618.1:c.3899C>T	XP_016879107.1:p.Ser1300Phe
XM_024450413.1:c.5075C>T	XP_024306181.1:p.Ser1692Phe
NM_000548.5:c.5189C>T MANE Select	NP_000539.2:p.Ser1730Phe
NM_001370404.1:c.5057C>T	NP_001357333.1:p.Ser1686Phe
NM_001370405.1:c.5048C>T	NP_001357334.1:p.Ser1683Phe
NM_001077183.3:c.4988C>T	NP_001070651.1:p.Ser1663Phe
NM_001114382.3:c.5120C>T	NP_001107854.1:p.Ser1707Phe
NM_001318827.2:c.4880C>T	NP_001305756.1:p.Ser1627Phe
NM_001318829.2:c.4844C>T	NP_001305758.1:p.Ser1615Phe
NM_001318831.2:c.4457C>T	NP_001305760.1:p.Ser1486Phe
NM_001318832.2:c.5021C>T	NP_001305761.1:p.Ser1674Phe
NM_001363528.2:c.4991C>T	NP_001350457.1:p.Ser1664Phe
NM_021055.3:c.5060C>T	NP_066399.2:p.Ser1687Phe