Canonical Allele Identifier: CA021390

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65215
• ClinVar RCV Id: RCV000055434 ; RCV000989440
• dbSNP Id: rs397515159
• MyVariant Identifiers: chr16:g.2136840T>C (hg19) ; chr16:g.2086839T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086839T>C , CM000678.2:g.2086839T>C	GRCh38
NC_000016.9:g.2136840T>C , CM000678.1:g.2136840T>C	GRCh37
NC_000016.8:g.2076841T>C	NCBI36
NG_005895.1:g.42534T>C , LRG_487:g.42534T>C
NG_008617.1:g.56382A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3306T>C	ENSP00000455997.2:n.*3306T>C
ENST00000642206.2:c.4804T>C	ENSP00000495146.2:p.Ser1602Pro
ENST00000642365.2:c.4954T>C	ENSP00000495459.2:p.Ser1652Pro
ENST00000644417.2:c.*5470T>C	ENSP00000493912.2:n.*5470T>C
ENST00000646464.2:c.*7706T>C	ENSP00000496610.2:n.*7706T>C
ENST00000219476.9:c.4957T>C MANE Select	ENSP00000219476.3:p.Ser1653Pro
ENST00000350773.9:c.4888T>C	ENSP00000344383.4:p.Ser1630Pro
ENST00000401874.7:c.4756T>C	ENSP00000384468.2:p.Ser1586Pro
ENST00000568454.6:c.4789T>C	ENSP00000454487.1:p.Ser1597Pro
ENST00000569110.2:c.1180T>C
ENST00000569930.2:n.2839T>C
ENST00000642365.1:c.3611T>C
ENST00000642561.1:c.4828T>C	ENSP00000495099.1:p.Ser1610Pro
ENST00000642728.1:n.1139T>C
ENST00000642791.1:n.554T>C
ENST00000642797.1:c.4759T>C	ENSP00000493846.1:p.Ser1587Pro
ENST00000642936.1:c.4825T>C	ENSP00000494514.1:p.Ser1609Pro
ENST00000643088.1:c.4750T>C	ENSP00000494747.1:p.Ser1584Pro
ENST00000643177.1:n.971T>C
ENST00000643426.1:n.2605T>C
ENST00000643946.1:c.4882T>C	ENSP00000495927.1:p.Ser1628Pro
ENST00000644043.1:c.4828T>C	ENSP00000496262.1:p.Ser1610Pro
ENST00000644278.1:n.439T>C
ENST00000644329.1:c.4756T>C	ENSP00000496611.1:p.Ser1586Pro
ENST00000644335.1:c.4753T>C	ENSP00000496317.1:p.Ser1585Pro
ENST00000644399.1:c.4878T>C
ENST00000645024.1:n.3041T>C
ENST00000646388.1:c.4951T>C	ENSP00000495921.1:p.Ser1651Pro
ENST00000646557.1:n.118T>C
ENST00000646634.1:n.3772T>C
ENST00000646674.1:n.2209T>C
ENST00000647042.1:n.2180T>C
ENST00000647180.1:n.2070T>C
ENST00000219476.7:c.4957T>C	ENSP00000219476.3:p.Ser1653Pro
ENST00000350773.8:c.4888T>C	ENSP00000344383.4:p.Ser1630Pro
ENST00000382538.10:c.4612T>C	ENSP00000371978.6:p.Ser1538Pro
ENST00000401874.6:c.4756T>C	ENSP00000384468.2:p.Ser1586Pro
ENST00000439117.6:c.*4124T>C	ENSP00000406980.2:n.*4124T>C
ENST00000439673.6:c.4648T>C	ENSP00000399232.2:p.Ser1550Pro
ENST00000497886.5:n.2680T>C
ENST00000568454.5:c.4789T>C	ENSP00000454487.1:p.Ser1597Pro
ENST00000569110.1:c.1139T>C
ENST00000569930.1:n.2072T>C
NM_000548.3:c.4957T>C , LRG_487t1:c.4957T>C	NP_000539.2:p.Ser1653Pro
NM_001077183.1:c.4756T>C	NP_001070651.1:p.Ser1586Pro
NM_001114382.1:c.4888T>C	NP_001107854.1:p.Ser1630Pro
XM_005255529.3:c.4828T>C	XP_005255586.2:p.Ser1610Pro
XM_005255531.3:c.4759T>C	XP_005255588.2:p.Ser1587Pro
XM_011522636.1:c.5011T>C	XP_011520938.1:p.Ser1671Pro
XM_011522637.1:c.5008T>C	XP_011520939.1:p.Ser1670Pro
XM_011522638.1:c.4900T>C	XP_011520940.1:p.Ser1634Pro
XM_011522639.1:c.4882T>C	XP_011520941.1:p.Ser1628Pro
XM_011522640.1:c.4879T>C	XP_011520942.1:p.Ser1627Pro
XM_011522641.1:c.4648T>C	XP_011520943.1:p.Ser1550Pro
NM_000548.4:c.4957T>C	NP_000539.2:p.Ser1653Pro
NM_001077183.2:c.4756T>C	NP_001070651.1:p.Ser1586Pro
NM_001114382.2:c.4888T>C	NP_001107854.1:p.Ser1630Pro
NM_001318827.1:c.4648T>C	NP_001305756.1:p.Ser1550Pro
NM_001318829.1:c.4612T>C	NP_001305758.1:p.Ser1538Pro
NM_001318831.1:c.4225T>C	NP_001305760.1:p.Ser1409Pro
NM_001318832.1:c.4789T>C	NP_001305761.1:p.Ser1597Pro
NM_001363528.1:c.4759T>C	NP_001350457.1:p.Ser1587Pro
NM_021055.2:c.4828T>C	NP_066399.2:p.Ser1610Pro
XM_005255531.4:c.4759T>C	XP_005255588.2:p.Ser1587Pro
XM_011522636.2:c.5011T>C	XP_011520938.1:p.Ser1671Pro
XM_011522637.2:c.5008T>C	XP_011520939.1:p.Ser1670Pro
XM_011522638.2:c.5173T>C	XP_011520940.2:p.Ser1725Pro
XM_011522639.2:c.4882T>C	XP_011520941.1:p.Ser1628Pro
XM_011522640.2:c.4879T>C	XP_011520942.1:p.Ser1627Pro
XM_017023615.1:c.4954T>C	XP_016879104.1:p.Ser1652Pro
XM_017023616.1:c.4825T>C	XP_016879105.1:p.Ser1609Pro
XM_017023617.1:c.4921T>C	XP_016879106.1:p.Ser1641Pro
XM_017023618.1:c.3667T>C	XP_016879107.1:p.Ser1223Pro
XM_024450413.1:c.4756T>C	XP_024306181.1:p.Ser1586Pro
NM_000548.5:c.4957T>C MANE Select	NP_000539.2:p.Ser1653Pro
NM_001370404.1:c.4825T>C	NP_001357333.1:p.Ser1609Pro
NM_001370405.1:c.4828T>C	NP_001357334.1:p.Ser1610Pro
NM_001077183.3:c.4756T>C	NP_001070651.1:p.Ser1586Pro
NM_001114382.3:c.4888T>C	NP_001107854.1:p.Ser1630Pro
NM_001318827.2:c.4648T>C	NP_001305756.1:p.Ser1550Pro
NM_001318829.2:c.4612T>C	NP_001305758.1:p.Ser1538Pro
NM_001318831.2:c.4225T>C	NP_001305760.1:p.Ser1409Pro
NM_001318832.2:c.4789T>C	NP_001305761.1:p.Ser1597Pro
NM_001363528.2:c.4759T>C	NP_001350457.1:p.Ser1587Pro
NM_021055.3:c.4828T>C	NP_066399.2:p.Ser1610Pro