Canonical Allele Identifier: CA394312361
Community Standard Title: NM_000548.5(TSC2):c.5119A>C (p.Asn1707His)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088098A>C , CM000678.2:g.2088098A>C GRCh38
NC_000016.9:g.2138099A>C , CM000678.1:g.2138099A>C GRCh37
NC_000016.8:g.2078100A>C NCBI36
NG_005895.1:g.43793A>C , LRG_487:g.43793A>C
NG_008617.1:g.55123T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5119A>C MANE Select NP_000539.2:p.Asn1707His
ENST00000219476.9:c.5119A>C MANE Select ENSP00000219476.3:p.Asn1707His
NM_000548.3:c.5119A>C , LRG_487t1:c.5119A>C NP_000539.2:p.Asn1707His
NM_000548.4:c.5119A>C NP_000539.2:p.Asn1707His
NM_001077183.1:c.4918A>C NP_001070651.1:p.Asn1640His
NM_001077183.2:c.4918A>C NP_001070651.1:p.Asn1640His
NM_001077183.3:c.4918A>C NP_001070651.1:p.Asn1640His
NM_001114382.1:c.5050A>C NP_001107854.1:p.Asn1684His
NM_001114382.2:c.5050A>C NP_001107854.1:p.Asn1684His
NM_001114382.3:c.5050A>C NP_001107854.1:p.Asn1684His
NM_001318827.1:c.4810A>C NP_001305756.1:p.Asn1604His
NM_001318827.2:c.4810A>C NP_001305756.1:p.Asn1604His
NM_001318829.1:c.4774A>C NP_001305758.1:p.Asn1592His
NM_001318829.2:c.4774A>C NP_001305758.1:p.Asn1592His
NM_001318831.1:c.4387A>C NP_001305760.1:p.Asn1463His
NM_001318831.2:c.4387A>C NP_001305760.1:p.Asn1463His
NM_001318832.1:c.4951A>C NP_001305761.1:p.Asn1651His
NM_001318832.2:c.4951A>C NP_001305761.1:p.Asn1651His
NM_001363528.1:c.4921A>C NP_001350457.1:p.Asn1641His
NM_001363528.2:c.4921A>C NP_001350457.1:p.Asn1641His
NM_001370404.1:c.4987A>C NP_001357333.1:p.Asn1663His
NM_001370405.1:c.4990A>C NP_001357334.1:p.Asn1664His
NM_021055.2:c.4990A>C NP_066399.2:p.Asn1664His
NM_021055.3:c.4990A>C NP_066399.2:p.Asn1664His
ENST00000219476.7:c.5119A>C ENSP00000219476.3:p.Asn1707His
ENST00000350773.8:c.5050A>C ENSP00000344383.4:p.Asn1684His
ENST00000350773.9:c.5050A>C ENSP00000344383.4:p.Asn1684His
ENST00000382538.10:c.4774A>C ENSP00000371978.6:p.Asn1592His
ENST00000401874.6:c.4918A>C ENSP00000384468.2:p.Asn1640His
ENST00000401874.7:c.4918A>C ENSP00000384468.2:p.Asn1640His
ENST00000439117.6:c.*4286A>C ENSP00000406980.2:n.*4286A>C
ENST00000439673.6:c.4810A>C ENSP00000399232.2:p.Asn1604His
ENST00000497886.5:n.2842A>C
ENST00000568454.5:c.4951A>C ENSP00000454487.1:p.Asn1651His
ENST00000568454.6:c.4951A>C ENSP00000454487.1:p.Asn1651His
ENST00000568566.6:c.*3468A>C ENSP00000455997.2:n.*3468A>C
ENST00000569110.1:c.1301A>C
ENST00000569110.2:c.1342A>C
ENST00000569930.1:n.2234A>C
ENST00000569930.2:n.3001A>C
ENST00000642206.2:c.4966A>C ENSP00000495146.2:p.Asn1656His
ENST00000642365.1:c.3773A>C
ENST00000642365.2:c.5116A>C ENSP00000495459.2:p.Asn1706His
ENST00000642561.1:c.4990A>C ENSP00000495099.1:p.Asn1664His
ENST00000642791.1:n.716A>C
ENST00000642797.1:c.4921A>C ENSP00000493846.1:p.Asn1641His
ENST00000642936.1:c.4987A>C ENSP00000494514.1:p.Asn1663His
ENST00000643088.1:c.4912A>C ENSP00000494747.1:p.Asn1638His
ENST00000643426.1:n.2767A>C
ENST00000643946.1:c.5044A>C ENSP00000495927.1:p.Asn1682His
ENST00000644043.1:c.4990A>C ENSP00000496262.1:p.Asn1664His
ENST00000644329.1:c.4918A>C ENSP00000496611.1:p.Asn1640His
ENST00000644335.1:c.4915A>C ENSP00000496317.1:p.Asn1639His
ENST00000644399.1:c.5040A>C
ENST00000644417.2:c.*5632A>C ENSP00000493912.2:n.*5632A>C
ENST00000645024.1:n.3203A>C
ENST00000646388.1:c.5113A>C ENSP00000495921.1:p.Asn1705His
ENST00000646464.2:c.*7868A>C ENSP00000496610.2:n.*7868A>C
ENST00000646634.1:n.3934A>C
ENST00000646674.1:n.2371A>C
ENST00000647042.1:n.2342A>C
ENST00000647180.1:n.2232A>C
XM_005255529.3:c.4990A>C XP_005255586.2:p.Asn1664His
XM_005255531.3:c.4921A>C XP_005255588.2:p.Asn1641His
XM_005255531.4:c.4921A>C XP_005255588.2:p.Asn1641His
XM_011522636.1:c.5173A>C XP_011520938.1:p.Asn1725His
XM_011522636.2:c.5173A>C XP_011520938.1:p.Asn1725His
XM_011522637.1:c.5170A>C XP_011520939.1:p.Asn1724His
XM_011522637.2:c.5170A>C XP_011520939.1:p.Asn1724His
XM_011522638.1:c.5062A>C XP_011520940.1:p.Asn1688His
XM_011522638.2:c.5335A>C XP_011520940.2:p.Asn1779His
XM_011522639.1:c.5044A>C XP_011520941.1:p.Asn1682His
XM_011522639.2:c.5044A>C XP_011520941.1:p.Asn1682His
XM_011522640.1:c.5041A>C XP_011520942.1:p.Asn1681His
XM_011522640.2:c.5041A>C XP_011520942.1:p.Asn1681His
XM_011522641.1:c.4810A>C XP_011520943.1:p.Asn1604His
XM_017023615.1:c.5116A>C XP_016879104.1:p.Asn1706His
XM_017023616.1:c.4987A>C XP_016879105.1:p.Asn1663His
XM_017023617.1:c.5083A>C XP_016879106.1:p.Asn1695His
XM_017023618.1:c.3829A>C XP_016879107.1:p.Asn1277His
XM_024450413.1:c.4918A>C XP_024306181.1:p.Asn1640His