Canonical Allele Identifier: CA021846

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49931
• ClinVar RCV Id: RCV000043198 ; RCV000201077
• dbSNP Id: rs45517395
• MyVariant Identifiers: chr16:g.2138118G>C (hg19) ; chr16:g.2088117G>C (hg38)
• PubMed: PMID:17304050

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088117G>C , CM000678.2:g.2088117G>C	GRCh38
NC_000016.9:g.2138118G>C , CM000678.1:g.2138118G>C	GRCh37
NC_000016.8:g.2078119G>C	NCBI36
NG_005895.1:g.43812G>C , LRG_487:g.43812G>C
NG_008617.1:g.55104C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3487G>C	ENSP00000455997.2:n.*3487G>C
ENST00000642206.2:c.4985G>C	ENSP00000495146.2:p.Arg1662Pro
ENST00000642365.2:c.5135G>C	ENSP00000495459.2:p.Arg1712Pro
ENST00000644417.2:c.*5651G>C	ENSP00000493912.2:n.*5651G>C
ENST00000646464.2:c.*7887G>C	ENSP00000496610.2:n.*7887G>C
ENST00000219476.9:c.5138G>C MANE Select	ENSP00000219476.3:p.Arg1713Pro
ENST00000350773.9:c.5069G>C	ENSP00000344383.4:p.Arg1690Pro
ENST00000401874.7:c.4937G>C	ENSP00000384468.2:p.Arg1646Pro
ENST00000568454.6:c.4970G>C	ENSP00000454487.1:p.Arg1657Pro
ENST00000569110.2:c.1361G>C
ENST00000569930.2:n.3020G>C
ENST00000642365.1:c.3792G>C
ENST00000642561.1:c.5009G>C	ENSP00000495099.1:p.Arg1670Pro
ENST00000642791.1:n.735G>C
ENST00000642797.1:c.4940G>C	ENSP00000493846.1:p.Arg1647Pro
ENST00000642936.1:c.5006G>C	ENSP00000494514.1:p.Arg1669Pro
ENST00000643088.1:c.4931G>C	ENSP00000494747.1:p.Arg1644Pro
ENST00000643426.1:n.2786G>C
ENST00000643946.1:c.5063G>C	ENSP00000495927.1:p.Arg1688Pro
ENST00000644043.1:c.5009G>C	ENSP00000496262.1:p.Arg1670Pro
ENST00000644329.1:c.4937G>C	ENSP00000496611.1:p.Arg1646Pro
ENST00000644335.1:c.4934G>C	ENSP00000496317.1:p.Arg1645Pro
ENST00000644399.1:c.5059G>C
ENST00000645024.1:n.3222G>C
ENST00000646388.1:c.5132G>C	ENSP00000495921.1:p.Arg1711Pro
ENST00000646634.1:n.3953G>C
ENST00000646674.1:n.2390G>C
ENST00000647042.1:n.2361G>C
ENST00000647180.1:n.2251G>C
ENST00000219476.7:c.5138G>C	ENSP00000219476.3:p.Arg1713Pro
ENST00000350773.8:c.5069G>C	ENSP00000344383.4:p.Arg1690Pro
ENST00000382538.10:c.4793G>C	ENSP00000371978.6:p.Arg1598Pro
ENST00000401874.6:c.4937G>C	ENSP00000384468.2:p.Arg1646Pro
ENST00000439117.6:c.*4305G>C	ENSP00000406980.2:n.*4305G>C
ENST00000439673.6:c.4829G>C	ENSP00000399232.2:p.Arg1610Pro
ENST00000497886.5:n.2861G>C
ENST00000568454.5:c.4970G>C	ENSP00000454487.1:p.Arg1657Pro
ENST00000569110.1:c.1320G>C
ENST00000569930.1:n.2253G>C
NM_000548.3:c.5138G>C , LRG_487t1:c.5138G>C	NP_000539.2:p.Arg1713Pro
NM_001077183.1:c.4937G>C	NP_001070651.1:p.Arg1646Pro
NM_001114382.1:c.5069G>C	NP_001107854.1:p.Arg1690Pro
XM_005255529.3:c.5009G>C	XP_005255586.2:p.Arg1670Pro
XM_005255531.3:c.4940G>C	XP_005255588.2:p.Arg1647Pro
XM_011522636.1:c.5192G>C	XP_011520938.1:p.Arg1731Pro
XM_011522637.1:c.5189G>C	XP_011520939.1:p.Arg1730Pro
XM_011522638.1:c.5081G>C	XP_011520940.1:p.Arg1694Pro
XM_011522639.1:c.5063G>C	XP_011520941.1:p.Arg1688Pro
XM_011522640.1:c.5060G>C	XP_011520942.1:p.Arg1687Pro
XM_011522641.1:c.4829G>C	XP_011520943.1:p.Arg1610Pro
NM_000548.4:c.5138G>C	NP_000539.2:p.Arg1713Pro
NM_001077183.2:c.4937G>C	NP_001070651.1:p.Arg1646Pro
NM_001114382.2:c.5069G>C	NP_001107854.1:p.Arg1690Pro
NM_001318827.1:c.4829G>C	NP_001305756.1:p.Arg1610Pro
NM_001318829.1:c.4793G>C	NP_001305758.1:p.Arg1598Pro
NM_001318831.1:c.4406G>C	NP_001305760.1:p.Arg1469Pro
NM_001318832.1:c.4970G>C	NP_001305761.1:p.Arg1657Pro
NM_001363528.1:c.4940G>C	NP_001350457.1:p.Arg1647Pro
NM_021055.2:c.5009G>C	NP_066399.2:p.Arg1670Pro
XM_005255531.4:c.4940G>C	XP_005255588.2:p.Arg1647Pro
XM_011522636.2:c.5192G>C	XP_011520938.1:p.Arg1731Pro
XM_011522637.2:c.5189G>C	XP_011520939.1:p.Arg1730Pro
XM_011522638.2:c.5354G>C	XP_011520940.2:p.Arg1785Pro
XM_011522639.2:c.5063G>C	XP_011520941.1:p.Arg1688Pro
XM_011522640.2:c.5060G>C	XP_011520942.1:p.Arg1687Pro
XM_017023615.1:c.5135G>C	XP_016879104.1:p.Arg1712Pro
XM_017023616.1:c.5006G>C	XP_016879105.1:p.Arg1669Pro
XM_017023617.1:c.5102G>C	XP_016879106.1:p.Arg1701Pro
XM_017023618.1:c.3848G>C	XP_016879107.1:p.Arg1283Pro
XM_024450413.1:c.4937G>C	XP_024306181.1:p.Arg1646Pro
NM_000548.5:c.5138G>C MANE Select	NP_000539.2:p.Arg1713Pro
NM_001370404.1:c.5006G>C	NP_001357333.1:p.Arg1669Pro
NM_001370405.1:c.5009G>C	NP_001357334.1:p.Arg1670Pro
NM_001077183.3:c.4937G>C	NP_001070651.1:p.Arg1646Pro
NM_001114382.3:c.5069G>C	NP_001107854.1:p.Arg1690Pro
NM_001318827.2:c.4829G>C	NP_001305756.1:p.Arg1610Pro
NM_001318829.2:c.4793G>C	NP_001305758.1:p.Arg1598Pro
NM_001318831.2:c.4406G>C	NP_001305760.1:p.Arg1469Pro
NM_001318832.2:c.4970G>C	NP_001305761.1:p.Arg1657Pro
NM_001363528.2:c.4940G>C	NP_001350457.1:p.Arg1647Pro
NM_021055.3:c.5009G>C	NP_066399.2:p.Arg1670Pro