Canonical Allele Identifier: CA022390

Gene: TSC2

Linked Data

• ClinVar Variation Id: 41745
• ClinVar RCV Id: RCV002482951
• dbSNP Id: rs9209
• ExAC: 16:2138508 G / C
• gnomAD v2: 16-2138508-G-C
• gnomAD v3: 16-2088507-G-C
• gnomAD v4: 16-2088507-G-C
• MyVariant Identifiers: chr16:g.2138508G>C (hg19) ; chr16:g.2088507G>C (hg38)
• PubMed: PMID:22703879 ; PMID:23891399 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088507G>C , CM000678.2:g.2088507G>C	GRCh38
NC_000016.9:g.2138508G>C , CM000678.1:g.2138508G>C	GRCh37
NC_000016.8:g.2078509G>C	NCBI36
NG_005895.1:g.44202G>C , LRG_487:g.44202G>C
NG_008617.1:g.54714C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3670G>C	ENSP00000455997.2:n.*3670G>C
ENST00000642206.2:c.5168G>C	ENSP00000495146.2:p.Ser1723Thr
ENST00000642365.2:c.5318G>C	ENSP00000495459.2:p.Ser1773Thr
ENST00000644417.2:c.*5834G>C	ENSP00000493912.2:n.*5834G>C
ENST00000646464.2:c.*8070G>C	ENSP00000496610.2:n.*8070G>C
ENST00000219476.9:c.5321G>C MANE Select	ENSP00000219476.3:p.Ser1774Thr
ENST00000350773.9:c.5252G>C	ENSP00000344383.4:p.Ser1751Thr
ENST00000401874.7:c.5120G>C	ENSP00000384468.2:p.Ser1707Thr
ENST00000568454.6:c.5153G>C	ENSP00000454487.1:p.Ser1718Thr
ENST00000569110.2:c.1544G>C
ENST00000569930.2:n.3203G>C
ENST00000642365.1:c.3975G>C
ENST00000642561.1:c.5180G>C	ENSP00000495099.1:p.Ser1727Thr
ENST00000642791.1:n.918G>C
ENST00000642797.1:c.5123G>C	ENSP00000493846.1:p.Ser1708Thr
ENST00000642936.1:c.5189G>C	ENSP00000494514.1:p.Ser1730Thr
ENST00000643088.1:c.5114G>C	ENSP00000494747.1:p.Ser1705Thr
ENST00000643426.1:n.2969G>C
ENST00000643946.1:c.5246G>C	ENSP00000495927.1:p.Ser1749Thr
ENST00000644043.1:c.5192G>C	ENSP00000496262.1:p.Ser1731Thr
ENST00000644329.1:c.5207G>C	ENSP00000496611.1:p.Ser1736Thr
ENST00000644335.1:c.5117G>C	ENSP00000496317.1:p.Ser1706Thr
ENST00000644399.1:c.5242G>C
ENST00000645024.1:n.3405G>C
ENST00000646388.1:c.5315G>C	ENSP00000495921.1:p.Ser1772Thr
ENST00000646634.1:n.4136G>C
ENST00000646674.1:n.2573G>C
ENST00000647042.1:n.2544G>C
ENST00000647180.1:n.2434G>C
ENST00000219476.7:c.5321G>C	ENSP00000219476.3:p.Ser1774Thr
ENST00000350773.8:c.5252G>C	ENSP00000344383.4:p.Ser1751Thr
ENST00000382538.10:c.4976G>C	ENSP00000371978.6:p.Ser1659Thr
ENST00000401874.6:c.5120G>C	ENSP00000384468.2:p.Ser1707Thr
ENST00000439117.6:c.*4488G>C	ENSP00000406980.2:n.*4488G>C
ENST00000439673.6:c.5012G>C	ENSP00000399232.2:p.Ser1671Thr
ENST00000497886.5:n.3044G>C
ENST00000568454.5:c.5153G>C	ENSP00000454487.1:p.Ser1718Thr
ENST00000569110.1:c.1503G>C
ENST00000569930.1:n.2436G>C
NM_000548.3:c.5321G>C , LRG_487t1:c.5321G>C	NP_000539.2:p.Ser1774Thr
NM_001077183.1:c.5120G>C	NP_001070651.1:p.Ser1707Thr
NM_001114382.1:c.5252G>C	NP_001107854.1:p.Ser1751Thr
XM_005255529.3:c.5192G>C	XP_005255586.2:p.Ser1731Thr
XM_005255531.3:c.5123G>C	XP_005255588.2:p.Ser1708Thr
XM_011522636.1:c.5375G>C	XP_011520938.1:p.Ser1792Thr
XM_011522637.1:c.5372G>C	XP_011520939.1:p.Ser1791Thr
XM_011522638.1:c.5264G>C	XP_011520940.1:p.Ser1755Thr
XM_011522639.1:c.5246G>C	XP_011520941.1:p.Ser1749Thr
XM_011522640.1:c.5243G>C	XP_011520942.1:p.Ser1748Thr
XM_011522641.1:c.5012G>C	XP_011520943.1:p.Ser1671Thr
NM_000548.4:c.5321G>C	NP_000539.2:p.Ser1774Thr
NM_001077183.2:c.5120G>C	NP_001070651.1:p.Ser1707Thr
NM_001114382.2:c.5252G>C	NP_001107854.1:p.Ser1751Thr
NM_001318827.1:c.5012G>C	NP_001305756.1:p.Ser1671Thr
NM_001318829.1:c.4976G>C	NP_001305758.1:p.Ser1659Thr
NM_001318831.1:c.4589G>C	NP_001305760.1:p.Ser1530Thr
NM_001318832.1:c.5153G>C	NP_001305761.1:p.Ser1718Thr
NM_001363528.1:c.5123G>C	NP_001350457.1:p.Ser1708Thr
NM_021055.2:c.5192G>C	NP_066399.2:p.Ser1731Thr
XM_005255531.4:c.5123G>C	XP_005255588.2:p.Ser1708Thr
XM_011522636.2:c.5375G>C	XP_011520938.1:p.Ser1792Thr
XM_011522637.2:c.5372G>C	XP_011520939.1:p.Ser1791Thr
XM_011522638.2:c.5537G>C	XP_011520940.2:p.Ser1846Thr
XM_011522639.2:c.5246G>C	XP_011520941.1:p.Ser1749Thr
XM_011522640.2:c.5243G>C	XP_011520942.1:p.Ser1748Thr
XM_017023615.1:c.5318G>C	XP_016879104.1:p.Ser1773Thr
XM_017023616.1:c.5189G>C	XP_016879105.1:p.Ser1730Thr
XM_017023617.1:c.5285G>C	XP_016879106.1:p.Ser1762Thr
XM_017023618.1:c.4031G>C	XP_016879107.1:p.Ser1344Thr
XM_024450413.1:c.5207G>C	XP_024306181.1:p.Ser1736Thr
NM_000548.5:c.5321G>C MANE Select	NP_000539.2:p.Ser1774Thr
NM_001370404.1:c.5189G>C	NP_001357333.1:p.Ser1730Thr
NM_001370405.1:c.5180G>C	NP_001357334.1:p.Ser1727Thr
NM_001077183.3:c.5120G>C	NP_001070651.1:p.Ser1707Thr
NM_001114382.3:c.5252G>C	NP_001107854.1:p.Ser1751Thr
NM_001318827.2:c.5012G>C	NP_001305756.1:p.Ser1671Thr
NM_001318829.2:c.4976G>C	NP_001305758.1:p.Ser1659Thr
NM_001318831.2:c.4589G>C	NP_001305760.1:p.Ser1530Thr
NM_001318832.2:c.5153G>C	NP_001305761.1:p.Ser1718Thr
NM_001363528.2:c.5123G>C	NP_001350457.1:p.Ser1708Thr
NM_021055.3:c.5192G>C	NP_066399.2:p.Ser1731Thr