Canonical Allele Identifier: CA394302958
Gene: TSC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085001A>C , CM000678.2:g.2085001A>C GRCh38
NC_000016.9:g.2135002A>C , CM000678.1:g.2135002A>C GRCh37
NC_000016.8:g.2075003A>C NCBI36
NG_005895.1:g.40696A>C , LRG_487:g.40696A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2893A>C ENSP00000455997.2:n.*2893A>C
ENST00000642206.2:c.4391A>C ENSP00000495146.2:p.Asn1464Thr
ENST00000642365.2:c.4541A>C ENSP00000495459.2:p.Asn1514Thr
ENST00000644417.2:c.*4924A>C ENSP00000493912.2:n.*4924A>C
ENST00000646464.2:c.*7293A>C ENSP00000496610.2:n.*7293A>C
ENST00000219476.9:c.4544A>C MANE Select ENSP00000219476.3:p.Asn1515Thr
ENST00000350773.9:c.4475A>C ENSP00000344383.4:p.Asn1492Thr
ENST00000401874.7:c.4343A>C ENSP00000384468.2:p.Asn1448Thr
ENST00000568454.6:c.4376A>C ENSP00000454487.1:p.Asn1459Thr
ENST00000569110.2:c.767A>C
ENST00000569930.2:n.2426A>C
ENST00000642365.1:c.3198A>C
ENST00000642561.1:c.4415A>C ENSP00000495099.1:p.Asn1472Thr
ENST00000642728.1:n.726A>C
ENST00000642797.1:c.4346A>C ENSP00000493846.1:p.Asn1449Thr
ENST00000642936.1:c.4412A>C ENSP00000494514.1:p.Asn1471Thr
ENST00000643088.1:c.4343A>C ENSP00000494747.1:p.Asn1448Thr
ENST00000643177.1:n.558A>C
ENST00000643426.1:n.2192A>C
ENST00000643946.1:c.4475A>C ENSP00000495927.1:p.Asn1492Thr
ENST00000644043.1:c.4415A>C ENSP00000496262.1:p.Asn1472Thr
ENST00000644329.1:c.4343A>C ENSP00000496611.1:p.Asn1448Thr
ENST00000644335.1:c.4346A>C ENSP00000496317.1:p.Asn1449Thr
ENST00000644399.1:c.4465A>C
ENST00000645024.1:n.2628A>C
ENST00000646388.1:c.4544A>C ENSP00000495921.1:p.Asn1515Thr
ENST00000646634.1:n.3359A>C
ENST00000646674.1:n.1796A>C
ENST00000647042.1:n.1767A>C
ENST00000647180.1:n.1657A>C
ENST00000219476.7:c.4544A>C ENSP00000219476.3:p.Asn1515Thr
ENST00000350773.8:c.4475A>C ENSP00000344383.4:p.Asn1492Thr
ENST00000382538.10:c.4199A>C ENSP00000371978.6:p.Asn1400Thr
ENST00000401874.6:c.4343A>C ENSP00000384468.2:p.Asn1448Thr
ENST00000439117.6:c.*3711A>C ENSP00000406980.2:n.*3711A>C
ENST00000439673.6:c.4235A>C ENSP00000399232.2:p.Asn1412Thr
ENST00000497886.5:n.2302A>C
ENST00000568454.5:c.4376A>C ENSP00000454487.1:p.Asn1459Thr
ENST00000569110.1:c.726A>C
ENST00000569930.1:n.1659A>C
NM_000548.3:c.4544A>C , LRG_487t1:c.4544A>C NP_000539.2:p.Asn1515Thr
NM_001077183.1:c.4343A>C NP_001070651.1:p.Asn1448Thr
NM_001114382.1:c.4475A>C NP_001107854.1:p.Asn1492Thr
XM_005255529.3:c.4415A>C XP_005255586.2:p.Asn1472Thr
XM_005255531.3:c.4346A>C XP_005255588.2:p.Asn1449Thr
XM_011522636.1:c.4598A>C XP_011520938.1:p.Asn1533Thr
XM_011522637.1:c.4595A>C XP_011520939.1:p.Asn1532Thr
XM_011522638.1:c.4487A>C XP_011520940.1:p.Asn1496Thr
XM_011522639.1:c.4469A>C XP_011520941.1:p.Asn1490Thr
XM_011522640.1:c.4466A>C XP_011520942.1:p.Asn1489Thr
XM_011522641.1:c.4235A>C XP_011520943.1:p.Asn1412Thr
NM_000548.4:c.4544A>C NP_000539.2:p.Asn1515Thr
NM_001077183.2:c.4343A>C NP_001070651.1:p.Asn1448Thr
NM_001114382.2:c.4475A>C NP_001107854.1:p.Asn1492Thr
NM_001318827.1:c.4235A>C NP_001305756.1:p.Asn1412Thr
NM_001318829.1:c.4199A>C NP_001305758.1:p.Asn1400Thr
NM_001318831.1:c.3812A>C NP_001305760.1:p.Asn1271Thr
NM_001318832.1:c.4376A>C NP_001305761.1:p.Asn1459Thr
NM_001363528.1:c.4346A>C NP_001350457.1:p.Asn1449Thr
NM_021055.2:c.4415A>C NP_066399.2:p.Asn1472Thr
XM_005255531.4:c.4346A>C XP_005255588.2:p.Asn1449Thr
XM_011522636.2:c.4598A>C XP_011520938.1:p.Asn1533Thr
XM_011522637.2:c.4595A>C XP_011520939.1:p.Asn1532Thr
XM_011522638.2:c.4760A>C XP_011520940.2:p.Asn1587Thr
XM_011522639.2:c.4469A>C XP_011520941.1:p.Asn1490Thr
XM_011522640.2:c.4466A>C XP_011520942.1:p.Asn1489Thr
XM_017023615.1:c.4541A>C XP_016879104.1:p.Asn1514Thr
XM_017023616.1:c.4412A>C XP_016879105.1:p.Asn1471Thr
XM_017023617.1:c.4508A>C XP_016879106.1:p.Asn1503Thr
XM_017023618.1:c.3254A>C XP_016879107.1:p.Asn1085Thr
XM_024450413.1:c.4343A>C XP_024306181.1:p.Asn1448Thr
NM_000548.5:c.4544A>C MANE Select NP_000539.2:p.Asn1515Thr
NM_001370404.1:c.4412A>C NP_001357333.1:p.Asn1471Thr
NM_001370405.1:c.4415A>C NP_001357334.1:p.Asn1472Thr
NM_001077183.3:c.4343A>C NP_001070651.1:p.Asn1448Thr
NM_001114382.3:c.4475A>C NP_001107854.1:p.Asn1492Thr
NM_001318827.2:c.4235A>C NP_001305756.1:p.Asn1412Thr
NM_001318829.2:c.4199A>C NP_001305758.1:p.Asn1400Thr
NM_001318831.2:c.3812A>C NP_001305760.1:p.Asn1271Thr
NM_001318832.2:c.4376A>C NP_001305761.1:p.Asn1459Thr
NM_001363528.2:c.4346A>C NP_001350457.1:p.Asn1449Thr
NM_021055.3:c.4415A>C NP_066399.2:p.Asn1472Thr