Canonical Allele Identifier: CA020460

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49925
• ClinVar RCV Id: RCV000043192 ; RCV000474980 ; RCV001022469 ; RCV001086757
• dbSNP Id: rs45517343
• gnomAD v4: 16-2084654-G-C
• MyVariant Identifiers: chr16:g.2134655G>C (hg19) ; chr16:g.2084654G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084654G>C , CM000678.2:g.2084654G>C	GRCh38
NC_000016.9:g.2134655G>C , CM000678.1:g.2134655G>C	GRCh37
NC_000016.8:g.2074656G>C	NCBI36
NG_005895.1:g.40349G>C , LRG_487:g.40349G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2781G>C	ENSP00000455997.2:n.*2781G>C
ENST00000642206.2:c.4279G>C	ENSP00000495146.2:p.Asp1427His
ENST00000642365.2:c.4429G>C	ENSP00000495459.2:p.Asp1477His
ENST00000644417.2:c.*4812G>C	ENSP00000493912.2:n.*4812G>C
ENST00000646464.2:c.*7181G>C	ENSP00000496610.2:n.*7181G>C
ENST00000219476.9:c.4432G>C MANE Select	ENSP00000219476.3:p.Asp1478His
ENST00000350773.9:c.4363G>C	ENSP00000344383.4:p.Asp1455His
ENST00000401874.7:c.4231G>C	ENSP00000384468.2:p.Asp1411His
ENST00000568454.6:c.4264G>C	ENSP00000454487.1:p.Asp1422His
ENST00000569110.2:c.668G>C
ENST00000569930.2:n.2314G>C
ENST00000642365.1:c.3086G>C
ENST00000642561.1:c.4303G>C	ENSP00000495099.1:p.Asp1435His
ENST00000642728.1:n.614G>C
ENST00000642797.1:c.4234G>C	ENSP00000493846.1:p.Asp1412His
ENST00000642936.1:c.4300G>C	ENSP00000494514.1:p.Asp1434His
ENST00000643088.1:c.4231G>C	ENSP00000494747.1:p.Asp1411His
ENST00000643177.1:n.446G>C
ENST00000643426.1:n.2080G>C
ENST00000643946.1:c.4363G>C	ENSP00000495927.1:p.Asp1455His
ENST00000644043.1:c.4303G>C	ENSP00000496262.1:p.Asp1435His
ENST00000644329.1:c.4231G>C	ENSP00000496611.1:p.Asp1411His
ENST00000644335.1:c.4234G>C	ENSP00000496317.1:p.Asp1412His
ENST00000644399.1:c.4353G>C
ENST00000645024.1:n.2516G>C
ENST00000646388.1:c.4432G>C	ENSP00000495921.1:p.Asp1478His
ENST00000646634.1:n.3247G>C
ENST00000646674.1:n.1684G>C
ENST00000647042.1:n.1655G>C
ENST00000647180.1:n.1545G>C
ENST00000219476.7:c.4432G>C	ENSP00000219476.3:p.Asp1478His
ENST00000350773.8:c.4363G>C	ENSP00000344383.4:p.Asp1455His
ENST00000382538.10:c.4087G>C	ENSP00000371978.6:p.Asp1363His
ENST00000401874.6:c.4231G>C	ENSP00000384468.2:p.Asp1411His
ENST00000439117.6:c.*3599G>C	ENSP00000406980.2:n.*3599G>C
ENST00000439673.6:c.4123G>C	ENSP00000399232.2:p.Asp1375His
ENST00000497886.5:n.2190G>C
ENST00000568454.5:c.4264G>C	ENSP00000454487.1:p.Asp1422His
ENST00000569110.1:c.614G>C
ENST00000569930.1:n.1547G>C
NM_000548.3:c.4432G>C , LRG_487t1:c.4432G>C	NP_000539.2:p.Asp1478His
NM_001077183.1:c.4231G>C	NP_001070651.1:p.Asp1411His
NM_001114382.1:c.4363G>C	NP_001107854.1:p.Asp1455His
XM_005255529.3:c.4303G>C	XP_005255586.2:p.Asp1435His
XM_005255531.3:c.4234G>C	XP_005255588.2:p.Asp1412His
XM_011522636.1:c.4486G>C	XP_011520938.1:p.Asp1496His
XM_011522637.1:c.4483G>C	XP_011520939.1:p.Asp1495His
XM_011522638.1:c.4375G>C	XP_011520940.1:p.Asp1459His
XM_011522639.1:c.4357G>C	XP_011520941.1:p.Asp1453His
XM_011522640.1:c.4354G>C	XP_011520942.1:p.Asp1452His
XM_011522641.1:c.4123G>C	XP_011520943.1:p.Asp1375His
NM_000548.4:c.4432G>C	NP_000539.2:p.Asp1478His
NM_001077183.2:c.4231G>C	NP_001070651.1:p.Asp1411His
NM_001114382.2:c.4363G>C	NP_001107854.1:p.Asp1455His
NM_001318827.1:c.4123G>C	NP_001305756.1:p.Asp1375His
NM_001318829.1:c.4087G>C	NP_001305758.1:p.Asp1363His
NM_001318831.1:c.3700G>C	NP_001305760.1:p.Asp1234His
NM_001318832.1:c.4264G>C	NP_001305761.1:p.Asp1422His
NM_001363528.1:c.4234G>C	NP_001350457.1:p.Asp1412His
NM_021055.2:c.4303G>C	NP_066399.2:p.Asp1435His
XM_005255531.4:c.4234G>C	XP_005255588.2:p.Asp1412His
XM_011522636.2:c.4486G>C	XP_011520938.1:p.Asp1496His
XM_011522637.2:c.4483G>C	XP_011520939.1:p.Asp1495His
XM_011522638.2:c.4648G>C	XP_011520940.2:p.Asp1550His
XM_011522639.2:c.4357G>C	XP_011520941.1:p.Asp1453His
XM_011522640.2:c.4354G>C	XP_011520942.1:p.Asp1452His
XM_017023615.1:c.4429G>C	XP_016879104.1:p.Asp1477His
XM_017023616.1:c.4300G>C	XP_016879105.1:p.Asp1434His
XM_017023617.1:c.4396G>C	XP_016879106.1:p.Asp1466His
XM_017023618.1:c.3142G>C	XP_016879107.1:p.Asp1048His
XM_024450413.1:c.4231G>C	XP_024306181.1:p.Asp1411His
NM_000548.5:c.4432G>C MANE Select	NP_000539.2:p.Asp1478His
NM_001370404.1:c.4300G>C	NP_001357333.1:p.Asp1434His
NM_001370405.1:c.4303G>C	NP_001357334.1:p.Asp1435His
NM_001077183.3:c.4231G>C	NP_001070651.1:p.Asp1411His
NM_001114382.3:c.4363G>C	NP_001107854.1:p.Asp1455His
NM_001318827.2:c.4123G>C	NP_001305756.1:p.Asp1375His
NM_001318829.2:c.4087G>C	NP_001305758.1:p.Asp1363His
NM_001318831.2:c.3700G>C	NP_001305760.1:p.Asp1234His
NM_001318832.2:c.4264G>C	NP_001305761.1:p.Asp1422His
NM_001363528.2:c.4234G>C	NP_001350457.1:p.Asp1412His
NM_021055.3:c.4303G>C	NP_066399.2:p.Asp1435His