Canonical Allele Identifier: CA394304868

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2767300
• ClinVar RCV Id: RCV003512645
• dbSNP Id: rs2090629438
• MyVariant Identifiers: chr16:g.2135293G>C (hg19) ; chr16:g.2085292G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085292G>C , CM000678.2:g.2085292G>C	GRCh38
NC_000016.9:g.2135293G>C , CM000678.1:g.2135293G>C	GRCh37
NC_000016.8:g.2075294G>C	NCBI36
NG_005895.1:g.40987G>C , LRG_487:g.40987G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2981G>C	ENSP00000455997.2:n.*2981G>C
ENST00000642206.2:c.4479G>C	ENSP00000495146.2:p.Lys1493Asn
ENST00000642365.2:c.4629G>C	ENSP00000495459.2:p.Lys1543Asn
ENST00000644417.2:c.*5012G>C	ENSP00000493912.2:n.*5012G>C
ENST00000646464.2:c.*7381G>C	ENSP00000496610.2:n.*7381G>C
ENST00000219476.9:c.4632G>C MANE Select	ENSP00000219476.3:p.Lys1544Asn
ENST00000350773.9:c.4563G>C	ENSP00000344383.4:p.Lys1521Asn
ENST00000401874.7:c.4431G>C	ENSP00000384468.2:p.Lys1477Asn
ENST00000568454.6:c.4464G>C	ENSP00000454487.1:p.Lys1488Asn
ENST00000569110.2:c.855G>C
ENST00000569930.2:n.2514G>C
ENST00000642365.1:c.3286G>C
ENST00000642561.1:c.4503G>C	ENSP00000495099.1:p.Lys1501Asn
ENST00000642728.1:n.814G>C
ENST00000642791.1:n.229G>C
ENST00000642797.1:c.4434G>C	ENSP00000493846.1:p.Lys1478Asn
ENST00000642936.1:c.4500G>C	ENSP00000494514.1:p.Lys1500Asn
ENST00000643088.1:c.4425G>C	ENSP00000494747.1:p.Lys1475Asn
ENST00000643177.1:n.646G>C
ENST00000643426.1:n.2280G>C
ENST00000643946.1:c.4557G>C	ENSP00000495927.1:p.Lys1519Asn
ENST00000644043.1:c.4503G>C	ENSP00000496262.1:p.Lys1501Asn
ENST00000644278.1:n.114G>C
ENST00000644329.1:c.4431G>C	ENSP00000496611.1:p.Lys1477Asn
ENST00000644335.1:c.4428G>C	ENSP00000496317.1:p.Lys1476Asn
ENST00000644399.1:c.4553G>C
ENST00000645024.1:n.2716G>C
ENST00000646388.1:c.4626G>C	ENSP00000495921.1:p.Lys1542Asn
ENST00000646634.1:n.3447G>C
ENST00000646674.1:n.1884G>C
ENST00000647042.1:n.1855G>C
ENST00000647180.1:n.1745G>C
ENST00000219476.7:c.4632G>C	ENSP00000219476.3:p.Lys1544Asn
ENST00000350773.8:c.4563G>C	ENSP00000344383.4:p.Lys1521Asn
ENST00000382538.10:c.4287G>C	ENSP00000371978.6:p.Lys1429Asn
ENST00000401874.6:c.4431G>C	ENSP00000384468.2:p.Lys1477Asn
ENST00000439117.6:c.*3799G>C	ENSP00000406980.2:n.*3799G>C
ENST00000439673.6:c.4323G>C	ENSP00000399232.2:p.Lys1441Asn
ENST00000497886.5:n.2390G>C
ENST00000568454.5:c.4464G>C	ENSP00000454487.1:p.Lys1488Asn
ENST00000569110.1:c.814G>C
ENST00000569930.1:n.1747G>C
NM_000548.3:c.4632G>C , LRG_487t1:c.4632G>C	NP_000539.2:p.Lys1544Asn
NM_001077183.1:c.4431G>C	NP_001070651.1:p.Lys1477Asn
NM_001114382.1:c.4563G>C	NP_001107854.1:p.Lys1521Asn
XM_005255529.3:c.4503G>C	XP_005255586.2:p.Lys1501Asn
XM_005255531.3:c.4434G>C	XP_005255588.2:p.Lys1478Asn
XM_011522636.1:c.4686G>C	XP_011520938.1:p.Lys1562Asn
XM_011522637.1:c.4683G>C	XP_011520939.1:p.Lys1561Asn
XM_011522638.1:c.4575G>C	XP_011520940.1:p.Lys1525Asn
XM_011522639.1:c.4557G>C	XP_011520941.1:p.Lys1519Asn
XM_011522640.1:c.4554G>C	XP_011520942.1:p.Lys1518Asn
XM_011522641.1:c.4323G>C	XP_011520943.1:p.Lys1441Asn
NM_000548.4:c.4632G>C	NP_000539.2:p.Lys1544Asn
NM_001077183.2:c.4431G>C	NP_001070651.1:p.Lys1477Asn
NM_001114382.2:c.4563G>C	NP_001107854.1:p.Lys1521Asn
NM_001318827.1:c.4323G>C	NP_001305756.1:p.Lys1441Asn
NM_001318829.1:c.4287G>C	NP_001305758.1:p.Lys1429Asn
NM_001318831.1:c.3900G>C	NP_001305760.1:p.Lys1300Asn
NM_001318832.1:c.4464G>C	NP_001305761.1:p.Lys1488Asn
NM_001363528.1:c.4434G>C	NP_001350457.1:p.Lys1478Asn
NM_021055.2:c.4503G>C	NP_066399.2:p.Lys1501Asn
XM_005255531.4:c.4434G>C	XP_005255588.2:p.Lys1478Asn
XM_011522636.2:c.4686G>C	XP_011520938.1:p.Lys1562Asn
XM_011522637.2:c.4683G>C	XP_011520939.1:p.Lys1561Asn
XM_011522638.2:c.4848G>C	XP_011520940.2:p.Lys1616Asn
XM_011522639.2:c.4557G>C	XP_011520941.1:p.Lys1519Asn
XM_011522640.2:c.4554G>C	XP_011520942.1:p.Lys1518Asn
XM_017023615.1:c.4629G>C	XP_016879104.1:p.Lys1543Asn
XM_017023616.1:c.4500G>C	XP_016879105.1:p.Lys1500Asn
XM_017023617.1:c.4596G>C	XP_016879106.1:p.Lys1532Asn
XM_017023618.1:c.3342G>C	XP_016879107.1:p.Lys1114Asn
XM_024450413.1:c.4431G>C	XP_024306181.1:p.Lys1477Asn
NM_000548.5:c.4632G>C MANE Select	NP_000539.2:p.Lys1544Asn
NM_001370404.1:c.4500G>C	NP_001357333.1:p.Lys1500Asn
NM_001370405.1:c.4503G>C	NP_001357334.1:p.Lys1501Asn
NM_001077183.3:c.4431G>C	NP_001070651.1:p.Lys1477Asn
NM_001114382.3:c.4563G>C	NP_001107854.1:p.Lys1521Asn
NM_001318827.2:c.4323G>C	NP_001305756.1:p.Lys1441Asn
NM_001318829.2:c.4287G>C	NP_001305758.1:p.Lys1429Asn
NM_001318831.2:c.3900G>C	NP_001305760.1:p.Lys1300Asn
NM_001318832.2:c.4464G>C	NP_001305761.1:p.Lys1488Asn
NM_001363528.2:c.4434G>C	NP_001350457.1:p.Lys1478Asn
NM_021055.3:c.4503G>C	NP_066399.2:p.Lys1501Asn