Canonical Allele Identifier: CA055156

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1507258
• ClinVar RCV Id: RCV002009401 ; RCV003303632
• dbSNP Id: rs768237144
• ExAC: 16:2138524 G / C
• gnomAD v2: 16-2138524-G-C
• gnomAD v4: 16-2088523-G-C
• MyVariant Identifiers: chr16:g.2138524G>C (hg19) ; chr16:g.2088523G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088523G>C , CM000678.2:g.2088523G>C	GRCh38
NC_000016.9:g.2138524G>C , CM000678.1:g.2138524G>C	GRCh37
NC_000016.8:g.2078525G>C	NCBI36
NG_005895.1:g.44218G>C , LRG_487:g.44218G>C
NG_008617.1:g.54698C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3686G>C	ENSP00000455997.2:n.*3686G>C
ENST00000642206.2:c.5184G>C	ENSP00000495146.2:p.Gln1728His
ENST00000642365.2:c.5334G>C	ENSP00000495459.2:p.Gln1778His
ENST00000644417.2:c.*5850G>C	ENSP00000493912.2:n.*5850G>C
ENST00000646464.2:c.*8086G>C	ENSP00000496610.2:n.*8086G>C
ENST00000219476.9:c.5337G>C MANE Select	ENSP00000219476.3:p.Gln1779His
ENST00000350773.9:c.5268G>C	ENSP00000344383.4:p.Gln1756His
ENST00000401874.7:c.5136G>C	ENSP00000384468.2:p.Gln1712His
ENST00000568454.6:c.5169G>C	ENSP00000454487.1:p.Gln1723His
ENST00000569110.2:c.1560G>C
ENST00000569930.2:n.3219G>C
ENST00000642365.1:c.3991G>C
ENST00000642561.1:c.5196G>C	ENSP00000495099.1:p.Gln1732His
ENST00000642791.1:n.934G>C
ENST00000642797.1:c.5139G>C	ENSP00000493846.1:p.Gln1713His
ENST00000642936.1:c.5205G>C	ENSP00000494514.1:p.Gln1735His
ENST00000643088.1:c.5130G>C	ENSP00000494747.1:p.Gln1710His
ENST00000643426.1:n.2985G>C
ENST00000643946.1:c.5262G>C	ENSP00000495927.1:p.Gln1754His
ENST00000644043.1:c.5208G>C	ENSP00000496262.1:p.Gln1736His
ENST00000644329.1:c.5223G>C	ENSP00000496611.1:p.Gln1741His
ENST00000644335.1:c.5133G>C	ENSP00000496317.1:p.Gln1711His
ENST00000644399.1:c.5258G>C
ENST00000645024.1:n.3421G>C
ENST00000646388.1:c.5331G>C	ENSP00000495921.1:p.Gln1777His
ENST00000646634.1:n.4152G>C
ENST00000646674.1:n.2589G>C
ENST00000647042.1:n.2560G>C
ENST00000647180.1:n.2450G>C
ENST00000219476.7:c.5337G>C	ENSP00000219476.3:p.Gln1779His
ENST00000350773.8:c.5268G>C	ENSP00000344383.4:p.Gln1756His
ENST00000382538.10:c.4992G>C	ENSP00000371978.6:p.Gln1664His
ENST00000401874.6:c.5136G>C	ENSP00000384468.2:p.Gln1712His
ENST00000439117.6:c.*4504G>C	ENSP00000406980.2:n.*4504G>C
ENST00000439673.6:c.5028G>C	ENSP00000399232.2:p.Gln1676His
ENST00000497886.5:n.3060G>C
ENST00000568454.5:c.5169G>C	ENSP00000454487.1:p.Gln1723His
ENST00000569110.1:c.1519G>C
ENST00000569930.1:n.2452G>C
NM_000548.3:c.5337G>C , LRG_487t1:c.5337G>C	NP_000539.2:p.Gln1779His
NM_001077183.1:c.5136G>C	NP_001070651.1:p.Gln1712His
NM_001114382.1:c.5268G>C	NP_001107854.1:p.Gln1756His
XM_005255529.3:c.5208G>C	XP_005255586.2:p.Gln1736His
XM_005255531.3:c.5139G>C	XP_005255588.2:p.Gln1713His
XM_011522636.1:c.5391G>C	XP_011520938.1:p.Gln1797His
XM_011522637.1:c.5388G>C	XP_011520939.1:p.Gln1796His
XM_011522638.1:c.5280G>C	XP_011520940.1:p.Gln1760His
XM_011522639.1:c.5262G>C	XP_011520941.1:p.Gln1754His
XM_011522640.1:c.5259G>C	XP_011520942.1:p.Gln1753His
XM_011522641.1:c.5028G>C	XP_011520943.1:p.Gln1676His
NM_000548.4:c.5337G>C	NP_000539.2:p.Gln1779His
NM_001077183.2:c.5136G>C	NP_001070651.1:p.Gln1712His
NM_001114382.2:c.5268G>C	NP_001107854.1:p.Gln1756His
NM_001318827.1:c.5028G>C	NP_001305756.1:p.Gln1676His
NM_001318829.1:c.4992G>C	NP_001305758.1:p.Gln1664His
NM_001318831.1:c.4605G>C	NP_001305760.1:p.Gln1535His
NM_001318832.1:c.5169G>C	NP_001305761.1:p.Gln1723His
NM_001363528.1:c.5139G>C	NP_001350457.1:p.Gln1713His
NM_021055.2:c.5208G>C	NP_066399.2:p.Gln1736His
XM_005255531.4:c.5139G>C	XP_005255588.2:p.Gln1713His
XM_011522636.2:c.5391G>C	XP_011520938.1:p.Gln1797His
XM_011522637.2:c.5388G>C	XP_011520939.1:p.Gln1796His
XM_011522638.2:c.5553G>C	XP_011520940.2:p.Gln1851His
XM_011522639.2:c.5262G>C	XP_011520941.1:p.Gln1754His
XM_011522640.2:c.5259G>C	XP_011520942.1:p.Gln1753His
XM_017023615.1:c.5334G>C	XP_016879104.1:p.Gln1778His
XM_017023616.1:c.5205G>C	XP_016879105.1:p.Gln1735His
XM_017023617.1:c.5301G>C	XP_016879106.1:p.Gln1767His
XM_017023618.1:c.4047G>C	XP_016879107.1:p.Gln1349His
XM_024450413.1:c.5223G>C	XP_024306181.1:p.Gln1741His
NM_000548.5:c.5337G>C MANE Select	NP_000539.2:p.Gln1779His
NM_001370404.1:c.5205G>C	NP_001357333.1:p.Gln1735His
NM_001370405.1:c.5196G>C	NP_001357334.1:p.Gln1732His
NM_001077183.3:c.5136G>C	NP_001070651.1:p.Gln1712His
NM_001114382.3:c.5268G>C	NP_001107854.1:p.Gln1756His
NM_001318827.2:c.5028G>C	NP_001305756.1:p.Gln1676His
NM_001318829.2:c.4992G>C	NP_001305758.1:p.Gln1664His
NM_001318831.2:c.4605G>C	NP_001305760.1:p.Gln1535His
NM_001318832.2:c.5169G>C	NP_001305761.1:p.Gln1723His
NM_001363528.2:c.5139G>C	NP_001350457.1:p.Gln1713His
NM_021055.3:c.5208G>C	NP_066399.2:p.Gln1736His