Canonical Allele Identifier: CA394304460

Gene: TSC2

Linked Data

• dbSNP Id: rs2151550678
• MyVariant Identifiers: chr16:g.2135249T>C (hg19) ; chr16:g.2085248T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085248T>C , CM000678.2:g.2085248T>C	GRCh38
NC_000016.9:g.2135249T>C , CM000678.1:g.2135249T>C	GRCh37
NC_000016.8:g.2075250T>C	NCBI36
NG_005895.1:g.40943T>C , LRG_487:g.40943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2937T>C	ENSP00000455997.2:n.*2937T>C
ENST00000642206.2:c.4435T>C	ENSP00000495146.2:p.Ser1479Pro
ENST00000642365.2:c.4585T>C	ENSP00000495459.2:p.Ser1529Pro
ENST00000644417.2:c.*4968T>C	ENSP00000493912.2:n.*4968T>C
ENST00000646464.2:c.*7337T>C	ENSP00000496610.2:n.*7337T>C
ENST00000219476.9:c.4588T>C MANE Select	ENSP00000219476.3:p.Ser1530Pro
ENST00000350773.9:c.4519T>C	ENSP00000344383.4:p.Ser1507Pro
ENST00000401874.7:c.4387T>C	ENSP00000384468.2:p.Ser1463Pro
ENST00000568454.6:c.4420T>C	ENSP00000454487.1:p.Ser1474Pro
ENST00000569110.2:c.811T>C
ENST00000569930.2:n.2470T>C
ENST00000642365.1:c.3242T>C
ENST00000642561.1:c.4459T>C	ENSP00000495099.1:p.Ser1487Pro
ENST00000642728.1:n.770T>C
ENST00000642791.1:n.185T>C
ENST00000642797.1:c.4390T>C	ENSP00000493846.1:p.Ser1464Pro
ENST00000642936.1:c.4456T>C	ENSP00000494514.1:p.Ser1486Pro
ENST00000643088.1:c.4381T>C	ENSP00000494747.1:p.Ser1461Pro
ENST00000643177.1:n.602T>C
ENST00000643426.1:n.2236T>C
ENST00000643946.1:c.4513T>C	ENSP00000495927.1:p.Ser1505Pro
ENST00000644043.1:c.4459T>C	ENSP00000496262.1:p.Ser1487Pro
ENST00000644278.1:n.70T>C
ENST00000644329.1:c.4387T>C	ENSP00000496611.1:p.Ser1463Pro
ENST00000644335.1:c.4384T>C	ENSP00000496317.1:p.Ser1462Pro
ENST00000644399.1:c.4509T>C
ENST00000645024.1:n.2672T>C
ENST00000646388.1:c.4582T>C	ENSP00000495921.1:p.Ser1528Pro
ENST00000646634.1:n.3403T>C
ENST00000646674.1:n.1840T>C
ENST00000647042.1:n.1811T>C
ENST00000647180.1:n.1701T>C
ENST00000219476.7:c.4588T>C	ENSP00000219476.3:p.Ser1530Pro
ENST00000350773.8:c.4519T>C	ENSP00000344383.4:p.Ser1507Pro
ENST00000382538.10:c.4243T>C	ENSP00000371978.6:p.Ser1415Pro
ENST00000401874.6:c.4387T>C	ENSP00000384468.2:p.Ser1463Pro
ENST00000439117.6:c.*3755T>C	ENSP00000406980.2:n.*3755T>C
ENST00000439673.6:c.4279T>C	ENSP00000399232.2:p.Ser1427Pro
ENST00000497886.5:n.2346T>C
ENST00000568454.5:c.4420T>C	ENSP00000454487.1:p.Ser1474Pro
ENST00000569110.1:c.770T>C
ENST00000569930.1:n.1703T>C
NM_000548.3:c.4588T>C , LRG_487t1:c.4588T>C	NP_000539.2:p.Ser1530Pro
NM_001077183.1:c.4387T>C	NP_001070651.1:p.Ser1463Pro
NM_001114382.1:c.4519T>C	NP_001107854.1:p.Ser1507Pro
XM_005255529.3:c.4459T>C	XP_005255586.2:p.Ser1487Pro
XM_005255531.3:c.4390T>C	XP_005255588.2:p.Ser1464Pro
XM_011522636.1:c.4642T>C	XP_011520938.1:p.Ser1548Pro
XM_011522637.1:c.4639T>C	XP_011520939.1:p.Ser1547Pro
XM_011522638.1:c.4531T>C	XP_011520940.1:p.Ser1511Pro
XM_011522639.1:c.4513T>C	XP_011520941.1:p.Ser1505Pro
XM_011522640.1:c.4510T>C	XP_011520942.1:p.Ser1504Pro
XM_011522641.1:c.4279T>C	XP_011520943.1:p.Ser1427Pro
NM_000548.4:c.4588T>C	NP_000539.2:p.Ser1530Pro
NM_001077183.2:c.4387T>C	NP_001070651.1:p.Ser1463Pro
NM_001114382.2:c.4519T>C	NP_001107854.1:p.Ser1507Pro
NM_001318827.1:c.4279T>C	NP_001305756.1:p.Ser1427Pro
NM_001318829.1:c.4243T>C	NP_001305758.1:p.Ser1415Pro
NM_001318831.1:c.3856T>C	NP_001305760.1:p.Ser1286Pro
NM_001318832.1:c.4420T>C	NP_001305761.1:p.Ser1474Pro
NM_001363528.1:c.4390T>C	NP_001350457.1:p.Ser1464Pro
NM_021055.2:c.4459T>C	NP_066399.2:p.Ser1487Pro
XM_005255531.4:c.4390T>C	XP_005255588.2:p.Ser1464Pro
XM_011522636.2:c.4642T>C	XP_011520938.1:p.Ser1548Pro
XM_011522637.2:c.4639T>C	XP_011520939.1:p.Ser1547Pro
XM_011522638.2:c.4804T>C	XP_011520940.2:p.Ser1602Pro
XM_011522639.2:c.4513T>C	XP_011520941.1:p.Ser1505Pro
XM_011522640.2:c.4510T>C	XP_011520942.1:p.Ser1504Pro
XM_017023615.1:c.4585T>C	XP_016879104.1:p.Ser1529Pro
XM_017023616.1:c.4456T>C	XP_016879105.1:p.Ser1486Pro
XM_017023617.1:c.4552T>C	XP_016879106.1:p.Ser1518Pro
XM_017023618.1:c.3298T>C	XP_016879107.1:p.Ser1100Pro
XM_024450413.1:c.4387T>C	XP_024306181.1:p.Ser1463Pro
NM_000548.5:c.4588T>C MANE Select	NP_000539.2:p.Ser1530Pro
NM_001370404.1:c.4456T>C	NP_001357333.1:p.Ser1486Pro
NM_001370405.1:c.4459T>C	NP_001357334.1:p.Ser1487Pro
NM_001077183.3:c.4387T>C	NP_001070651.1:p.Ser1463Pro
NM_001114382.3:c.4519T>C	NP_001107854.1:p.Ser1507Pro
NM_001318827.2:c.4279T>C	NP_001305756.1:p.Ser1427Pro
NM_001318829.2:c.4243T>C	NP_001305758.1:p.Ser1415Pro
NM_001318831.2:c.3856T>C	NP_001305760.1:p.Ser1286Pro
NM_001318832.2:c.4420T>C	NP_001305761.1:p.Ser1474Pro
NM_001363528.2:c.4390T>C	NP_001350457.1:p.Ser1464Pro
NM_021055.3:c.4459T>C	NP_066399.2:p.Ser1487Pro