Canonical Allele Identifier: CA492958664

Gene: TSC2

Linked Data

• ClinVar Variation Id: 825068
• ClinVar RCV Id: RCV001022835 ; RCV001459410 ; RCV003393786
• dbSNP Id: rs397515028
• gnomAD v2: 16-2135308-T-C
• gnomAD v4: 16-2085307-T-C
• MyVariant Identifiers: chr16:g.2135308T>C (hg19) ; chr16:g.2085307T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085307T>C , CM000678.2:g.2085307T>C	GRCh38
NC_000016.9:g.2135308T>C , CM000678.1:g.2135308T>C	GRCh37
NC_000016.8:g.2075309T>C	NCBI36
NG_005895.1:g.41002T>C , LRG_487:g.41002T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2996T>C	ENSP00000455997.2:n.*2996T>C
ENST00000642206.2:c.4494T>C	ENSP00000495146.2:p.Tyr1498=
ENST00000642365.2:c.4644T>C	ENSP00000495459.2:p.Tyr1548=
ENST00000644417.2:c.*5027T>C	ENSP00000493912.2:n.*5027T>C
ENST00000646464.2:c.*7396T>C	ENSP00000496610.2:n.*7396T>C
ENST00000219476.9:c.4647T>C MANE Select	ENSP00000219476.3:p.Tyr1549=
ENST00000350773.9:c.4578T>C	ENSP00000344383.4:p.Tyr1526=
ENST00000401874.7:c.4446T>C	ENSP00000384468.2:p.Tyr1482=
ENST00000568454.6:c.4479T>C	ENSP00000454487.1:p.Tyr1493=
ENST00000569110.2:c.870T>C
ENST00000569930.2:n.2529T>C
ENST00000642365.1:c.3301T>C
ENST00000642561.1:c.4518T>C	ENSP00000495099.1:p.Tyr1506=
ENST00000642728.1:n.829T>C
ENST00000642791.1:n.244T>C
ENST00000642797.1:c.4449T>C	ENSP00000493846.1:p.Tyr1483=
ENST00000642936.1:c.4515T>C	ENSP00000494514.1:p.Tyr1505=
ENST00000643088.1:c.4440T>C	ENSP00000494747.1:p.Tyr1480=
ENST00000643177.1:n.661T>C
ENST00000643426.1:n.2295T>C
ENST00000643946.1:c.4572T>C	ENSP00000495927.1:p.Tyr1524=
ENST00000644043.1:c.4518T>C	ENSP00000496262.1:p.Tyr1506=
ENST00000644278.1:n.129T>C
ENST00000644329.1:c.4446T>C	ENSP00000496611.1:p.Tyr1482=
ENST00000644335.1:c.4443T>C	ENSP00000496317.1:p.Tyr1481=
ENST00000644399.1:c.4568T>C
ENST00000645024.1:n.2731T>C
ENST00000646388.1:c.4641T>C	ENSP00000495921.1:p.Tyr1547=
ENST00000646634.1:n.3462T>C
ENST00000646674.1:n.1899T>C
ENST00000647042.1:n.1870T>C
ENST00000647180.1:n.1760T>C
ENST00000219476.7:c.4647T>C	ENSP00000219476.3:p.Tyr1549=
ENST00000350773.8:c.4578T>C	ENSP00000344383.4:p.Tyr1526=
ENST00000382538.10:c.4302T>C	ENSP00000371978.6:p.Tyr1434=
ENST00000401874.6:c.4446T>C	ENSP00000384468.2:p.Tyr1482=
ENST00000439117.6:c.*3814T>C	ENSP00000406980.2:n.*3814T>C
ENST00000439673.6:c.4338T>C	ENSP00000399232.2:p.Tyr1446=
ENST00000497886.5:n.2405T>C
ENST00000568454.5:c.4479T>C	ENSP00000454487.1:p.Tyr1493=
ENST00000569110.1:c.829T>C
ENST00000569930.1:n.1762T>C
NM_000548.3:c.4647T>C , LRG_487t1:c.4647T>C	NP_000539.2:p.Tyr1549=
NM_001077183.1:c.4446T>C	NP_001070651.1:p.Tyr1482=
NM_001114382.1:c.4578T>C	NP_001107854.1:p.Tyr1526=
XM_005255529.3:c.4518T>C	XP_005255586.2:p.Tyr1506=
XM_005255531.3:c.4449T>C	XP_005255588.2:p.Tyr1483=
XM_011522636.1:c.4701T>C	XP_011520938.1:p.Tyr1567=
XM_011522637.1:c.4698T>C	XP_011520939.1:p.Tyr1566=
XM_011522638.1:c.4590T>C	XP_011520940.1:p.Tyr1530=
XM_011522639.1:c.4572T>C	XP_011520941.1:p.Tyr1524=
XM_011522640.1:c.4569T>C	XP_011520942.1:p.Tyr1523=
XM_011522641.1:c.4338T>C	XP_011520943.1:p.Tyr1446=
NM_000548.4:c.4647T>C	NP_000539.2:p.Tyr1549=
NM_001077183.2:c.4446T>C	NP_001070651.1:p.Tyr1482=
NM_001114382.2:c.4578T>C	NP_001107854.1:p.Tyr1526=
NM_001318827.1:c.4338T>C	NP_001305756.1:p.Tyr1446=
NM_001318829.1:c.4302T>C	NP_001305758.1:p.Tyr1434=
NM_001318831.1:c.3915T>C	NP_001305760.1:p.Tyr1305=
NM_001318832.1:c.4479T>C	NP_001305761.1:p.Tyr1493=
NM_001363528.1:c.4449T>C	NP_001350457.1:p.Tyr1483=
NM_021055.2:c.4518T>C	NP_066399.2:p.Tyr1506=
XM_005255531.4:c.4449T>C	XP_005255588.2:p.Tyr1483=
XM_011522636.2:c.4701T>C	XP_011520938.1:p.Tyr1567=
XM_011522637.2:c.4698T>C	XP_011520939.1:p.Tyr1566=
XM_011522638.2:c.4863T>C	XP_011520940.2:p.Tyr1621=
XM_011522639.2:c.4572T>C	XP_011520941.1:p.Tyr1524=
XM_011522640.2:c.4569T>C	XP_011520942.1:p.Tyr1523=
XM_017023615.1:c.4644T>C	XP_016879104.1:p.Tyr1548=
XM_017023616.1:c.4515T>C	XP_016879105.1:p.Tyr1505=
XM_017023617.1:c.4611T>C	XP_016879106.1:p.Tyr1537=
XM_017023618.1:c.3357T>C	XP_016879107.1:p.Tyr1119=
XM_024450413.1:c.4446T>C	XP_024306181.1:p.Tyr1482=
NM_000548.5:c.4647T>C MANE Select	NP_000539.2:p.Tyr1549=
NM_001370404.1:c.4515T>C	NP_001357333.1:p.Tyr1505=
NM_001370405.1:c.4518T>C	NP_001357334.1:p.Tyr1506=
NM_001077183.3:c.4446T>C	NP_001070651.1:p.Tyr1482=
NM_001114382.3:c.4578T>C	NP_001107854.1:p.Tyr1526=
NM_001318827.2:c.4338T>C	NP_001305756.1:p.Tyr1446=
NM_001318829.2:c.4302T>C	NP_001305758.1:p.Tyr1434=
NM_001318831.2:c.3915T>C	NP_001305760.1:p.Tyr1305=
NM_001318832.2:c.4479T>C	NP_001305761.1:p.Tyr1493=
NM_001363528.2:c.4449T>C	NP_001350457.1:p.Tyr1483=
NM_021055.3:c.4518T>C	NP_066399.2:p.Tyr1506=