Canonical Allele Identifier: CA051912

Gene: TSC2

Linked Data

• dbSNP Id: rs375520841
• ExAC: 16:2135261 C / T
• gnomAD v2: 16-2135261-C-T
• MyVariant Identifiers: chr16:g.2135261C>T (hg19) ; chr16:g.2085260C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085260C>T , CM000678.2:g.2085260C>T	GRCh38
NC_000016.9:g.2135261C>T , CM000678.1:g.2135261C>T	GRCh37
NC_000016.8:g.2075262C>T	NCBI36
NG_005895.1:g.40955C>T , LRG_487:g.40955C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2949C>T	ENSP00000455997.2:n.*2949C>T
ENST00000642206.2:c.4447C>T	ENSP00000495146.2:p.Leu1483Phe
ENST00000642365.2:c.4597C>T	ENSP00000495459.2:p.Leu1533Phe
ENST00000644417.2:c.*4980C>T	ENSP00000493912.2:n.*4980C>T
ENST00000646464.2:c.*7349C>T	ENSP00000496610.2:n.*7349C>T
ENST00000219476.9:c.4600C>T MANE Select	ENSP00000219476.3:p.Leu1534Phe
ENST00000350773.9:c.4531C>T	ENSP00000344383.4:p.Leu1511Phe
ENST00000401874.7:c.4399C>T	ENSP00000384468.2:p.Leu1467Phe
ENST00000568454.6:c.4432C>T	ENSP00000454487.1:p.Leu1478Phe
ENST00000569110.2:c.823C>T
ENST00000569930.2:n.2482C>T
ENST00000642365.1:c.3254C>T
ENST00000642561.1:c.4471C>T	ENSP00000495099.1:p.Leu1491Phe
ENST00000642728.1:n.782C>T
ENST00000642791.1:n.197C>T
ENST00000642797.1:c.4402C>T	ENSP00000493846.1:p.Leu1468Phe
ENST00000642936.1:c.4468C>T	ENSP00000494514.1:p.Leu1490Phe
ENST00000643088.1:c.4393C>T	ENSP00000494747.1:p.Leu1465Phe
ENST00000643177.1:n.614C>T
ENST00000643426.1:n.2248C>T
ENST00000643946.1:c.4525C>T	ENSP00000495927.1:p.Leu1509Phe
ENST00000644043.1:c.4471C>T	ENSP00000496262.1:p.Leu1491Phe
ENST00000644278.1:n.82C>T
ENST00000644329.1:c.4399C>T	ENSP00000496611.1:p.Leu1467Phe
ENST00000644335.1:c.4396C>T	ENSP00000496317.1:p.Leu1466Phe
ENST00000644399.1:c.4521C>T
ENST00000645024.1:n.2684C>T
ENST00000646388.1:c.4594C>T	ENSP00000495921.1:p.Leu1532Phe
ENST00000646634.1:n.3415C>T
ENST00000646674.1:n.1852C>T
ENST00000647042.1:n.1823C>T
ENST00000647180.1:n.1713C>T
ENST00000219476.7:c.4600C>T	ENSP00000219476.3:p.Leu1534Phe
ENST00000350773.8:c.4531C>T	ENSP00000344383.4:p.Leu1511Phe
ENST00000382538.10:c.4255C>T	ENSP00000371978.6:p.Leu1419Phe
ENST00000401874.6:c.4399C>T	ENSP00000384468.2:p.Leu1467Phe
ENST00000439117.6:c.*3767C>T	ENSP00000406980.2:n.*3767C>T
ENST00000439673.6:c.4291C>T	ENSP00000399232.2:p.Leu1431Phe
ENST00000497886.5:n.2358C>T
ENST00000568454.5:c.4432C>T	ENSP00000454487.1:p.Leu1478Phe
ENST00000569110.1:c.782C>T
ENST00000569930.1:n.1715C>T
NM_000548.3:c.4600C>T , LRG_487t1:c.4600C>T	NP_000539.2:p.Leu1534Phe
NM_001077183.1:c.4399C>T	NP_001070651.1:p.Leu1467Phe
NM_001114382.1:c.4531C>T	NP_001107854.1:p.Leu1511Phe
XM_005255529.3:c.4471C>T	XP_005255586.2:p.Leu1491Phe
XM_005255531.3:c.4402C>T	XP_005255588.2:p.Leu1468Phe
XM_011522636.1:c.4654C>T	XP_011520938.1:p.Leu1552Phe
XM_011522637.1:c.4651C>T	XP_011520939.1:p.Leu1551Phe
XM_011522638.1:c.4543C>T	XP_011520940.1:p.Leu1515Phe
XM_011522639.1:c.4525C>T	XP_011520941.1:p.Leu1509Phe
XM_011522640.1:c.4522C>T	XP_011520942.1:p.Leu1508Phe
XM_011522641.1:c.4291C>T	XP_011520943.1:p.Leu1431Phe
NM_000548.4:c.4600C>T	NP_000539.2:p.Leu1534Phe
NM_001077183.2:c.4399C>T	NP_001070651.1:p.Leu1467Phe
NM_001114382.2:c.4531C>T	NP_001107854.1:p.Leu1511Phe
NM_001318827.1:c.4291C>T	NP_001305756.1:p.Leu1431Phe
NM_001318829.1:c.4255C>T	NP_001305758.1:p.Leu1419Phe
NM_001318831.1:c.3868C>T	NP_001305760.1:p.Leu1290Phe
NM_001318832.1:c.4432C>T	NP_001305761.1:p.Leu1478Phe
NM_001363528.1:c.4402C>T	NP_001350457.1:p.Leu1468Phe
NM_021055.2:c.4471C>T	NP_066399.2:p.Leu1491Phe
XM_005255531.4:c.4402C>T	XP_005255588.2:p.Leu1468Phe
XM_011522636.2:c.4654C>T	XP_011520938.1:p.Leu1552Phe
XM_011522637.2:c.4651C>T	XP_011520939.1:p.Leu1551Phe
XM_011522638.2:c.4816C>T	XP_011520940.2:p.Leu1606Phe
XM_011522639.2:c.4525C>T	XP_011520941.1:p.Leu1509Phe
XM_011522640.2:c.4522C>T	XP_011520942.1:p.Leu1508Phe
XM_017023615.1:c.4597C>T	XP_016879104.1:p.Leu1533Phe
XM_017023616.1:c.4468C>T	XP_016879105.1:p.Leu1490Phe
XM_017023617.1:c.4564C>T	XP_016879106.1:p.Leu1522Phe
XM_017023618.1:c.3310C>T	XP_016879107.1:p.Leu1104Phe
XM_024450413.1:c.4399C>T	XP_024306181.1:p.Leu1467Phe
NM_000548.5:c.4600C>T MANE Select	NP_000539.2:p.Leu1534Phe
NM_001370404.1:c.4468C>T	NP_001357333.1:p.Leu1490Phe
NM_001370405.1:c.4471C>T	NP_001357334.1:p.Leu1491Phe
NM_001077183.3:c.4399C>T	NP_001070651.1:p.Leu1467Phe
NM_001114382.3:c.4531C>T	NP_001107854.1:p.Leu1511Phe
NM_001318827.2:c.4291C>T	NP_001305756.1:p.Leu1431Phe
NM_001318829.2:c.4255C>T	NP_001305758.1:p.Leu1419Phe
NM_001318831.2:c.3868C>T	NP_001305760.1:p.Leu1290Phe
NM_001318832.2:c.4432C>T	NP_001305761.1:p.Leu1478Phe
NM_001363528.2:c.4402C>T	NP_001350457.1:p.Leu1468Phe
NM_021055.3:c.4471C>T	NP_066399.2:p.Leu1491Phe