Canonical Allele Identifier: CA394314631

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1517318
• ClinVar RCV Id: RCV002027265
• dbSNP Id: rs2151631966
• MyVariant Identifiers: chr16:g.2138306A>T (hg19) ; chr16:g.2088305A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088305A>T , CM000678.2:g.2088305A>T	GRCh38
NC_000016.9:g.2138306A>T , CM000678.1:g.2138306A>T	GRCh37
NC_000016.8:g.2078307A>T	NCBI36
NG_005895.1:g.44000A>T , LRG_487:g.44000A>T
NG_008617.1:g.54916T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3588A>T	ENSP00000455997.2:n.*3588A>T
ENST00000642206.2:c.5086A>T	ENSP00000495146.2:p.Ile1696Phe
ENST00000642365.2:c.5236A>T	ENSP00000495459.2:p.Ile1746Phe
ENST00000644417.2:c.*5752A>T	ENSP00000493912.2:n.*5752A>T
ENST00000646464.2:c.*7988A>T	ENSP00000496610.2:n.*7988A>T
ENST00000219476.9:c.5239A>T MANE Select	ENSP00000219476.3:p.Ile1747Phe
ENST00000350773.9:c.5170A>T	ENSP00000344383.4:p.Ile1724Phe
ENST00000401874.7:c.5038A>T	ENSP00000384468.2:p.Ile1680Phe
ENST00000568454.6:c.5071A>T	ENSP00000454487.1:p.Ile1691Phe
ENST00000569110.2:c.1462A>T
ENST00000569930.2:n.3121A>T
ENST00000642365.1:c.3893A>T
ENST00000642561.1:c.5098A>T	ENSP00000495099.1:p.Ile1700Phe
ENST00000642791.1:n.836A>T
ENST00000642797.1:c.5041A>T	ENSP00000493846.1:p.Ile1681Phe
ENST00000642936.1:c.5107A>T	ENSP00000494514.1:p.Ile1703Phe
ENST00000643088.1:c.5032A>T	ENSP00000494747.1:p.Ile1678Phe
ENST00000643426.1:n.2887A>T
ENST00000643946.1:c.5164A>T	ENSP00000495927.1:p.Ile1722Phe
ENST00000644043.1:c.5110A>T	ENSP00000496262.1:p.Ile1704Phe
ENST00000644329.1:c.5125A>T	ENSP00000496611.1:p.Ile1709Phe
ENST00000644335.1:c.5035A>T	ENSP00000496317.1:p.Ile1679Phe
ENST00000644399.1:c.5160A>T
ENST00000645024.1:n.3323A>T
ENST00000646388.1:c.5233A>T	ENSP00000495921.1:p.Ile1745Phe
ENST00000646634.1:n.4054A>T
ENST00000646674.1:n.2491A>T
ENST00000647042.1:n.2462A>T
ENST00000647180.1:n.2352A>T
ENST00000219476.7:c.5239A>T	ENSP00000219476.3:p.Ile1747Phe
ENST00000350773.8:c.5170A>T	ENSP00000344383.4:p.Ile1724Phe
ENST00000382538.10:c.4894A>T	ENSP00000371978.6:p.Ile1632Phe
ENST00000401874.6:c.5038A>T	ENSP00000384468.2:p.Ile1680Phe
ENST00000439117.6:c.*4406A>T	ENSP00000406980.2:n.*4406A>T
ENST00000439673.6:c.4930A>T	ENSP00000399232.2:p.Ile1644Phe
ENST00000497886.5:n.2962A>T
ENST00000568454.5:c.5071A>T	ENSP00000454487.1:p.Ile1691Phe
ENST00000569110.1:c.1421A>T
ENST00000569930.1:n.2354A>T
NM_000548.3:c.5239A>T , LRG_487t1:c.5239A>T	NP_000539.2:p.Ile1747Phe
NM_001077183.1:c.5038A>T	NP_001070651.1:p.Ile1680Phe
NM_001114382.1:c.5170A>T	NP_001107854.1:p.Ile1724Phe
XM_005255529.3:c.5110A>T	XP_005255586.2:p.Ile1704Phe
XM_005255531.3:c.5041A>T	XP_005255588.2:p.Ile1681Phe
XM_011522636.1:c.5293A>T	XP_011520938.1:p.Ile1765Phe
XM_011522637.1:c.5290A>T	XP_011520939.1:p.Ile1764Phe
XM_011522638.1:c.5182A>T	XP_011520940.1:p.Ile1728Phe
XM_011522639.1:c.5164A>T	XP_011520941.1:p.Ile1722Phe
XM_011522640.1:c.5161A>T	XP_011520942.1:p.Ile1721Phe
XM_011522641.1:c.4930A>T	XP_011520943.1:p.Ile1644Phe
NM_000548.4:c.5239A>T	NP_000539.2:p.Ile1747Phe
NM_001077183.2:c.5038A>T	NP_001070651.1:p.Ile1680Phe
NM_001114382.2:c.5170A>T	NP_001107854.1:p.Ile1724Phe
NM_001318827.1:c.4930A>T	NP_001305756.1:p.Ile1644Phe
NM_001318829.1:c.4894A>T	NP_001305758.1:p.Ile1632Phe
NM_001318831.1:c.4507A>T	NP_001305760.1:p.Ile1503Phe
NM_001318832.1:c.5071A>T	NP_001305761.1:p.Ile1691Phe
NM_001363528.1:c.5041A>T	NP_001350457.1:p.Ile1681Phe
NM_021055.2:c.5110A>T	NP_066399.2:p.Ile1704Phe
XM_005255531.4:c.5041A>T	XP_005255588.2:p.Ile1681Phe
XM_011522636.2:c.5293A>T	XP_011520938.1:p.Ile1765Phe
XM_011522637.2:c.5290A>T	XP_011520939.1:p.Ile1764Phe
XM_011522638.2:c.5455A>T	XP_011520940.2:p.Ile1819Phe
XM_011522639.2:c.5164A>T	XP_011520941.1:p.Ile1722Phe
XM_011522640.2:c.5161A>T	XP_011520942.1:p.Ile1721Phe
XM_017023615.1:c.5236A>T	XP_016879104.1:p.Ile1746Phe
XM_017023616.1:c.5107A>T	XP_016879105.1:p.Ile1703Phe
XM_017023617.1:c.5203A>T	XP_016879106.1:p.Ile1735Phe
XM_017023618.1:c.3949A>T	XP_016879107.1:p.Ile1317Phe
XM_024450413.1:c.5125A>T	XP_024306181.1:p.Ile1709Phe
NM_000548.5:c.5239A>T MANE Select	NP_000539.2:p.Ile1747Phe
NM_001370404.1:c.5107A>T	NP_001357333.1:p.Ile1703Phe
NM_001370405.1:c.5098A>T	NP_001357334.1:p.Ile1700Phe
NM_001077183.3:c.5038A>T	NP_001070651.1:p.Ile1680Phe
NM_001114382.3:c.5170A>T	NP_001107854.1:p.Ile1724Phe
NM_001318827.2:c.4930A>T	NP_001305756.1:p.Ile1644Phe
NM_001318829.2:c.4894A>T	NP_001305758.1:p.Ile1632Phe
NM_001318831.2:c.4507A>T	NP_001305760.1:p.Ile1503Phe
NM_001318832.2:c.5071A>T	NP_001305761.1:p.Ile1691Phe
NM_001363528.2:c.5041A>T	NP_001350457.1:p.Ile1681Phe
NM_021055.3:c.5110A>T	NP_066399.2:p.Ile1704Phe