Canonical Allele Identifier: CA394302956

Gene: TSC2

Linked Data

• gnomAD v4: 16-2085000-A-T
• MyVariant Identifiers: chr16:g.2135001A>T (hg19) ; chr16:g.2085000A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085000A>T , CM000678.2:g.2085000A>T	GRCh38
NC_000016.9:g.2135001A>T , CM000678.1:g.2135001A>T	GRCh37
NC_000016.8:g.2075002A>T	NCBI36
NG_005895.1:g.40695A>T , LRG_487:g.40695A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2892A>T	ENSP00000455997.2:n.*2892A>T
ENST00000642206.2:c.4390A>T	ENSP00000495146.2:p.Asn1464Tyr
ENST00000642365.2:c.4540A>T	ENSP00000495459.2:p.Asn1514Tyr
ENST00000644417.2:c.*4923A>T	ENSP00000493912.2:n.*4923A>T
ENST00000646464.2:c.*7292A>T	ENSP00000496610.2:n.*7292A>T
ENST00000219476.9:c.4543A>T MANE Select	ENSP00000219476.3:p.Asn1515Tyr
ENST00000350773.9:c.4474A>T	ENSP00000344383.4:p.Asn1492Tyr
ENST00000401874.7:c.4342A>T	ENSP00000384468.2:p.Asn1448Tyr
ENST00000568454.6:c.4375A>T	ENSP00000454487.1:p.Asn1459Tyr
ENST00000569110.2:c.766A>T
ENST00000569930.2:n.2425A>T
ENST00000642365.1:c.3197A>T
ENST00000642561.1:c.4414A>T	ENSP00000495099.1:p.Asn1472Tyr
ENST00000642728.1:n.725A>T
ENST00000642797.1:c.4345A>T	ENSP00000493846.1:p.Asn1449Tyr
ENST00000642936.1:c.4411A>T	ENSP00000494514.1:p.Asn1471Tyr
ENST00000643088.1:c.4342A>T	ENSP00000494747.1:p.Asn1448Tyr
ENST00000643177.1:n.557A>T
ENST00000643426.1:n.2191A>T
ENST00000643946.1:c.4474A>T	ENSP00000495927.1:p.Asn1492Tyr
ENST00000644043.1:c.4414A>T	ENSP00000496262.1:p.Asn1472Tyr
ENST00000644329.1:c.4342A>T	ENSP00000496611.1:p.Asn1448Tyr
ENST00000644335.1:c.4345A>T	ENSP00000496317.1:p.Asn1449Tyr
ENST00000644399.1:c.4464A>T
ENST00000645024.1:n.2627A>T
ENST00000646388.1:c.4543A>T	ENSP00000495921.1:p.Asn1515Tyr
ENST00000646634.1:n.3358A>T
ENST00000646674.1:n.1795A>T
ENST00000647042.1:n.1766A>T
ENST00000647180.1:n.1656A>T
ENST00000219476.7:c.4543A>T	ENSP00000219476.3:p.Asn1515Tyr
ENST00000350773.8:c.4474A>T	ENSP00000344383.4:p.Asn1492Tyr
ENST00000382538.10:c.4198A>T	ENSP00000371978.6:p.Asn1400Tyr
ENST00000401874.6:c.4342A>T	ENSP00000384468.2:p.Asn1448Tyr
ENST00000439117.6:c.*3710A>T	ENSP00000406980.2:n.*3710A>T
ENST00000439673.6:c.4234A>T	ENSP00000399232.2:p.Asn1412Tyr
ENST00000497886.5:n.2301A>T
ENST00000568454.5:c.4375A>T	ENSP00000454487.1:p.Asn1459Tyr
ENST00000569110.1:c.725A>T
ENST00000569930.1:n.1658A>T
NM_000548.3:c.4543A>T , LRG_487t1:c.4543A>T	NP_000539.2:p.Asn1515Tyr
NM_001077183.1:c.4342A>T	NP_001070651.1:p.Asn1448Tyr
NM_001114382.1:c.4474A>T	NP_001107854.1:p.Asn1492Tyr
XM_005255529.3:c.4414A>T	XP_005255586.2:p.Asn1472Tyr
XM_005255531.3:c.4345A>T	XP_005255588.2:p.Asn1449Tyr
XM_011522636.1:c.4597A>T	XP_011520938.1:p.Asn1533Tyr
XM_011522637.1:c.4594A>T	XP_011520939.1:p.Asn1532Tyr
XM_011522638.1:c.4486A>T	XP_011520940.1:p.Asn1496Tyr
XM_011522639.1:c.4468A>T	XP_011520941.1:p.Asn1490Tyr
XM_011522640.1:c.4465A>T	XP_011520942.1:p.Asn1489Tyr
XM_011522641.1:c.4234A>T	XP_011520943.1:p.Asn1412Tyr
NM_000548.4:c.4543A>T	NP_000539.2:p.Asn1515Tyr
NM_001077183.2:c.4342A>T	NP_001070651.1:p.Asn1448Tyr
NM_001114382.2:c.4474A>T	NP_001107854.1:p.Asn1492Tyr
NM_001318827.1:c.4234A>T	NP_001305756.1:p.Asn1412Tyr
NM_001318829.1:c.4198A>T	NP_001305758.1:p.Asn1400Tyr
NM_001318831.1:c.3811A>T	NP_001305760.1:p.Asn1271Tyr
NM_001318832.1:c.4375A>T	NP_001305761.1:p.Asn1459Tyr
NM_001363528.1:c.4345A>T	NP_001350457.1:p.Asn1449Tyr
NM_021055.2:c.4414A>T	NP_066399.2:p.Asn1472Tyr
XM_005255531.4:c.4345A>T	XP_005255588.2:p.Asn1449Tyr
XM_011522636.2:c.4597A>T	XP_011520938.1:p.Asn1533Tyr
XM_011522637.2:c.4594A>T	XP_011520939.1:p.Asn1532Tyr
XM_011522638.2:c.4759A>T	XP_011520940.2:p.Asn1587Tyr
XM_011522639.2:c.4468A>T	XP_011520941.1:p.Asn1490Tyr
XM_011522640.2:c.4465A>T	XP_011520942.1:p.Asn1489Tyr
XM_017023615.1:c.4540A>T	XP_016879104.1:p.Asn1514Tyr
XM_017023616.1:c.4411A>T	XP_016879105.1:p.Asn1471Tyr
XM_017023617.1:c.4507A>T	XP_016879106.1:p.Asn1503Tyr
XM_017023618.1:c.3253A>T	XP_016879107.1:p.Asn1085Tyr
XM_024450413.1:c.4342A>T	XP_024306181.1:p.Asn1448Tyr
NM_000548.5:c.4543A>T MANE Select	NP_000539.2:p.Asn1515Tyr
NM_001370404.1:c.4411A>T	NP_001357333.1:p.Asn1471Tyr
NM_001370405.1:c.4414A>T	NP_001357334.1:p.Asn1472Tyr
NM_001077183.3:c.4342A>T	NP_001070651.1:p.Asn1448Tyr
NM_001114382.3:c.4474A>T	NP_001107854.1:p.Asn1492Tyr
NM_001318827.2:c.4234A>T	NP_001305756.1:p.Asn1412Tyr
NM_001318829.2:c.4198A>T	NP_001305758.1:p.Asn1400Tyr
NM_001318831.2:c.3811A>T	NP_001305760.1:p.Asn1271Tyr
NM_001318832.2:c.4375A>T	NP_001305761.1:p.Asn1459Tyr
NM_001363528.2:c.4345A>T	NP_001350457.1:p.Asn1449Tyr
NM_021055.3:c.4414A>T	NP_066399.2:p.Asn1472Tyr