Canonical Allele Identifier: CA394315391

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1006099
• ClinVar RCV Id: RCV001303092
• dbSNP Id: rs562220073
• MyVariant Identifiers: chr16:g.2138494C>G (hg19) ; chr16:g.2088493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088493C>G , CM000678.2:g.2088493C>G	GRCh38
NC_000016.9:g.2138494C>G , CM000678.1:g.2138494C>G	GRCh37
NC_000016.8:g.2078495C>G	NCBI36
NG_005895.1:g.44188C>G , LRG_487:g.44188C>G
NG_008617.1:g.54728G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3656C>G	ENSP00000455997.2:n.*3656C>G
ENST00000642206.2:c.5154C>G	ENSP00000495146.2:p.His1718Gln
ENST00000642365.2:c.5304C>G	ENSP00000495459.2:p.His1768Gln
ENST00000644417.2:c.*5820C>G	ENSP00000493912.2:n.*5820C>G
ENST00000646464.2:c.*8056C>G	ENSP00000496610.2:n.*8056C>G
ENST00000219476.9:c.5307C>G MANE Select	ENSP00000219476.3:p.His1769Gln
ENST00000350773.9:c.5238C>G	ENSP00000344383.4:p.His1746Gln
ENST00000401874.7:c.5106C>G	ENSP00000384468.2:p.His1702Gln
ENST00000568454.6:c.5139C>G	ENSP00000454487.1:p.His1713Gln
ENST00000569110.2:c.1530C>G
ENST00000569930.2:n.3189C>G
ENST00000642365.1:c.3961C>G
ENST00000642561.1:c.5166C>G	ENSP00000495099.1:p.His1722Gln
ENST00000642791.1:n.904C>G
ENST00000642797.1:c.5109C>G	ENSP00000493846.1:p.His1703Gln
ENST00000642936.1:c.5175C>G	ENSP00000494514.1:p.His1725Gln
ENST00000643088.1:c.5100C>G	ENSP00000494747.1:p.His1700Gln
ENST00000643426.1:n.2955C>G
ENST00000643946.1:c.5232C>G	ENSP00000495927.1:p.His1744Gln
ENST00000644043.1:c.5178C>G	ENSP00000496262.1:p.His1726Gln
ENST00000644329.1:c.5193C>G	ENSP00000496611.1:p.His1731Gln
ENST00000644335.1:c.5103C>G	ENSP00000496317.1:p.His1701Gln
ENST00000644399.1:c.5228C>G
ENST00000645024.1:n.3391C>G
ENST00000646388.1:c.5301C>G	ENSP00000495921.1:p.His1767Gln
ENST00000646634.1:n.4122C>G
ENST00000646674.1:n.2559C>G
ENST00000647042.1:n.2530C>G
ENST00000647180.1:n.2420C>G
ENST00000219476.7:c.5307C>G	ENSP00000219476.3:p.His1769Gln
ENST00000350773.8:c.5238C>G	ENSP00000344383.4:p.His1746Gln
ENST00000382538.10:c.4962C>G	ENSP00000371978.6:p.His1654Gln
ENST00000401874.6:c.5106C>G	ENSP00000384468.2:p.His1702Gln
ENST00000439117.6:c.*4474C>G	ENSP00000406980.2:n.*4474C>G
ENST00000439673.6:c.4998C>G	ENSP00000399232.2:p.His1666Gln
ENST00000497886.5:n.3030C>G
ENST00000568454.5:c.5139C>G	ENSP00000454487.1:p.His1713Gln
ENST00000569110.1:c.1489C>G
ENST00000569930.1:n.2422C>G
NM_000548.3:c.5307C>G , LRG_487t1:c.5307C>G	NP_000539.2:p.His1769Gln
NM_001077183.1:c.5106C>G	NP_001070651.1:p.His1702Gln
NM_001114382.1:c.5238C>G	NP_001107854.1:p.His1746Gln
XM_005255529.3:c.5178C>G	XP_005255586.2:p.His1726Gln
XM_005255531.3:c.5109C>G	XP_005255588.2:p.His1703Gln
XM_011522636.1:c.5361C>G	XP_011520938.1:p.His1787Gln
XM_011522637.1:c.5358C>G	XP_011520939.1:p.His1786Gln
XM_011522638.1:c.5250C>G	XP_011520940.1:p.His1750Gln
XM_011522639.1:c.5232C>G	XP_011520941.1:p.His1744Gln
XM_011522640.1:c.5229C>G	XP_011520942.1:p.His1743Gln
XM_011522641.1:c.4998C>G	XP_011520943.1:p.His1666Gln
NM_000548.4:c.5307C>G	NP_000539.2:p.His1769Gln
NM_001077183.2:c.5106C>G	NP_001070651.1:p.His1702Gln
NM_001114382.2:c.5238C>G	NP_001107854.1:p.His1746Gln
NM_001318827.1:c.4998C>G	NP_001305756.1:p.His1666Gln
NM_001318829.1:c.4962C>G	NP_001305758.1:p.His1654Gln
NM_001318831.1:c.4575C>G	NP_001305760.1:p.His1525Gln
NM_001318832.1:c.5139C>G	NP_001305761.1:p.His1713Gln
NM_001363528.1:c.5109C>G	NP_001350457.1:p.His1703Gln
NM_021055.2:c.5178C>G	NP_066399.2:p.His1726Gln
XM_005255531.4:c.5109C>G	XP_005255588.2:p.His1703Gln
XM_011522636.2:c.5361C>G	XP_011520938.1:p.His1787Gln
XM_011522637.2:c.5358C>G	XP_011520939.1:p.His1786Gln
XM_011522638.2:c.5523C>G	XP_011520940.2:p.His1841Gln
XM_011522639.2:c.5232C>G	XP_011520941.1:p.His1744Gln
XM_011522640.2:c.5229C>G	XP_011520942.1:p.His1743Gln
XM_017023615.1:c.5304C>G	XP_016879104.1:p.His1768Gln
XM_017023616.1:c.5175C>G	XP_016879105.1:p.His1725Gln
XM_017023617.1:c.5271C>G	XP_016879106.1:p.His1757Gln
XM_017023618.1:c.4017C>G	XP_016879107.1:p.His1339Gln
XM_024450413.1:c.5193C>G	XP_024306181.1:p.His1731Gln
NM_000548.5:c.5307C>G MANE Select	NP_000539.2:p.His1769Gln
NM_001370404.1:c.5175C>G	NP_001357333.1:p.His1725Gln
NM_001370405.1:c.5166C>G	NP_001357334.1:p.His1722Gln
NM_001077183.3:c.5106C>G	NP_001070651.1:p.His1702Gln
NM_001114382.3:c.5238C>G	NP_001107854.1:p.His1746Gln
NM_001318827.2:c.4998C>G	NP_001305756.1:p.His1666Gln
NM_001318829.2:c.4962C>G	NP_001305758.1:p.His1654Gln
NM_001318831.2:c.4575C>G	NP_001305760.1:p.His1525Gln
NM_001318832.2:c.5139C>G	NP_001305761.1:p.His1713Gln
NM_001363528.2:c.5109C>G	NP_001350457.1:p.His1703Gln
NM_021055.3:c.5178C>G	NP_066399.2:p.His1726Gln