Canonical Allele Identifier: CA394304864

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2717127
• ClinVar RCV Id: RCV003513216
• MyVariant Identifiers: chr16:g.2135292A>C (hg19) ; chr16:g.2085291A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085291A>C , CM000678.2:g.2085291A>C	GRCh38
NC_000016.9:g.2135292A>C , CM000678.1:g.2135292A>C	GRCh37
NC_000016.8:g.2075293A>C	NCBI36
NG_005895.1:g.40986A>C , LRG_487:g.40986A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2980A>C	ENSP00000455997.2:n.*2980A>C
ENST00000642206.2:c.4478A>C	ENSP00000495146.2:p.Lys1493Thr
ENST00000642365.2:c.4628A>C	ENSP00000495459.2:p.Lys1543Thr
ENST00000644417.2:c.*5011A>C	ENSP00000493912.2:n.*5011A>C
ENST00000646464.2:c.*7380A>C	ENSP00000496610.2:n.*7380A>C
ENST00000219476.9:c.4631A>C MANE Select	ENSP00000219476.3:p.Lys1544Thr
ENST00000350773.9:c.4562A>C	ENSP00000344383.4:p.Lys1521Thr
ENST00000401874.7:c.4430A>C	ENSP00000384468.2:p.Lys1477Thr
ENST00000568454.6:c.4463A>C	ENSP00000454487.1:p.Lys1488Thr
ENST00000569110.2:c.854A>C
ENST00000569930.2:n.2513A>C
ENST00000642365.1:c.3285A>C
ENST00000642561.1:c.4502A>C	ENSP00000495099.1:p.Lys1501Thr
ENST00000642728.1:n.813A>C
ENST00000642791.1:n.228A>C
ENST00000642797.1:c.4433A>C	ENSP00000493846.1:p.Lys1478Thr
ENST00000642936.1:c.4499A>C	ENSP00000494514.1:p.Lys1500Thr
ENST00000643088.1:c.4424A>C	ENSP00000494747.1:p.Lys1475Thr
ENST00000643177.1:n.645A>C
ENST00000643426.1:n.2279A>C
ENST00000643946.1:c.4556A>C	ENSP00000495927.1:p.Lys1519Thr
ENST00000644043.1:c.4502A>C	ENSP00000496262.1:p.Lys1501Thr
ENST00000644278.1:n.113A>C
ENST00000644329.1:c.4430A>C	ENSP00000496611.1:p.Lys1477Thr
ENST00000644335.1:c.4427A>C	ENSP00000496317.1:p.Lys1476Thr
ENST00000644399.1:c.4552A>C
ENST00000645024.1:n.2715A>C
ENST00000646388.1:c.4625A>C	ENSP00000495921.1:p.Lys1542Thr
ENST00000646634.1:n.3446A>C
ENST00000646674.1:n.1883A>C
ENST00000647042.1:n.1854A>C
ENST00000647180.1:n.1744A>C
ENST00000219476.7:c.4631A>C	ENSP00000219476.3:p.Lys1544Thr
ENST00000350773.8:c.4562A>C	ENSP00000344383.4:p.Lys1521Thr
ENST00000382538.10:c.4286A>C	ENSP00000371978.6:p.Lys1429Thr
ENST00000401874.6:c.4430A>C	ENSP00000384468.2:p.Lys1477Thr
ENST00000439117.6:c.*3798A>C	ENSP00000406980.2:n.*3798A>C
ENST00000439673.6:c.4322A>C	ENSP00000399232.2:p.Lys1441Thr
ENST00000497886.5:n.2389A>C
ENST00000568454.5:c.4463A>C	ENSP00000454487.1:p.Lys1488Thr
ENST00000569110.1:c.813A>C
ENST00000569930.1:n.1746A>C
NM_000548.3:c.4631A>C , LRG_487t1:c.4631A>C	NP_000539.2:p.Lys1544Thr
NM_001077183.1:c.4430A>C	NP_001070651.1:p.Lys1477Thr
NM_001114382.1:c.4562A>C	NP_001107854.1:p.Lys1521Thr
XM_005255529.3:c.4502A>C	XP_005255586.2:p.Lys1501Thr
XM_005255531.3:c.4433A>C	XP_005255588.2:p.Lys1478Thr
XM_011522636.1:c.4685A>C	XP_011520938.1:p.Lys1562Thr
XM_011522637.1:c.4682A>C	XP_011520939.1:p.Lys1561Thr
XM_011522638.1:c.4574A>C	XP_011520940.1:p.Lys1525Thr
XM_011522639.1:c.4556A>C	XP_011520941.1:p.Lys1519Thr
XM_011522640.1:c.4553A>C	XP_011520942.1:p.Lys1518Thr
XM_011522641.1:c.4322A>C	XP_011520943.1:p.Lys1441Thr
NM_000548.4:c.4631A>C	NP_000539.2:p.Lys1544Thr
NM_001077183.2:c.4430A>C	NP_001070651.1:p.Lys1477Thr
NM_001114382.2:c.4562A>C	NP_001107854.1:p.Lys1521Thr
NM_001318827.1:c.4322A>C	NP_001305756.1:p.Lys1441Thr
NM_001318829.1:c.4286A>C	NP_001305758.1:p.Lys1429Thr
NM_001318831.1:c.3899A>C	NP_001305760.1:p.Lys1300Thr
NM_001318832.1:c.4463A>C	NP_001305761.1:p.Lys1488Thr
NM_001363528.1:c.4433A>C	NP_001350457.1:p.Lys1478Thr
NM_021055.2:c.4502A>C	NP_066399.2:p.Lys1501Thr
XM_005255531.4:c.4433A>C	XP_005255588.2:p.Lys1478Thr
XM_011522636.2:c.4685A>C	XP_011520938.1:p.Lys1562Thr
XM_011522637.2:c.4682A>C	XP_011520939.1:p.Lys1561Thr
XM_011522638.2:c.4847A>C	XP_011520940.2:p.Lys1616Thr
XM_011522639.2:c.4556A>C	XP_011520941.1:p.Lys1519Thr
XM_011522640.2:c.4553A>C	XP_011520942.1:p.Lys1518Thr
XM_017023615.1:c.4628A>C	XP_016879104.1:p.Lys1543Thr
XM_017023616.1:c.4499A>C	XP_016879105.1:p.Lys1500Thr
XM_017023617.1:c.4595A>C	XP_016879106.1:p.Lys1532Thr
XM_017023618.1:c.3341A>C	XP_016879107.1:p.Lys1114Thr
XM_024450413.1:c.4430A>C	XP_024306181.1:p.Lys1477Thr
NM_000548.5:c.4631A>C MANE Select	NP_000539.2:p.Lys1544Thr
NM_001370404.1:c.4499A>C	NP_001357333.1:p.Lys1500Thr
NM_001370405.1:c.4502A>C	NP_001357334.1:p.Lys1501Thr
NM_001077183.3:c.4430A>C	NP_001070651.1:p.Lys1477Thr
NM_001114382.3:c.4562A>C	NP_001107854.1:p.Lys1521Thr
NM_001318827.2:c.4322A>C	NP_001305756.1:p.Lys1441Thr
NM_001318829.2:c.4286A>C	NP_001305758.1:p.Lys1429Thr
NM_001318831.2:c.3899A>C	NP_001305760.1:p.Lys1300Thr
NM_001318832.2:c.4463A>C	NP_001305761.1:p.Lys1488Thr
NM_001363528.2:c.4433A>C	NP_001350457.1:p.Lys1478Thr
NM_021055.3:c.4502A>C	NP_066399.2:p.Lys1501Thr