Canonical Allele Identifier: CA394308836
Community Standard Title: NM_000548.5(TSC2):c.4951A>C (p.Asn1651His)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086833A>C , CM000678.2:g.2086833A>C GRCh38
NC_000016.9:g.2136834A>C , CM000678.1:g.2136834A>C GRCh37
NC_000016.8:g.2076835A>C NCBI36
NG_005895.1:g.42528A>C , LRG_487:g.42528A>C
NG_008617.1:g.56388T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4951A>C MANE Select NP_000539.2:p.Asn1651His
ENST00000219476.9:c.4951A>C MANE Select ENSP00000219476.3:p.Asn1651His
NM_000548.3:c.4951A>C , LRG_487t1:c.4951A>C NP_000539.2:p.Asn1651His
NM_000548.4:c.4951A>C NP_000539.2:p.Asn1651His
NM_001077183.1:c.4750A>C NP_001070651.1:p.Asn1584His
NM_001077183.2:c.4750A>C NP_001070651.1:p.Asn1584His
NM_001077183.3:c.4750A>C NP_001070651.1:p.Asn1584His
NM_001114382.1:c.4882A>C NP_001107854.1:p.Asn1628His
NM_001114382.2:c.4882A>C NP_001107854.1:p.Asn1628His
NM_001114382.3:c.4882A>C NP_001107854.1:p.Asn1628His
NM_001318827.1:c.4642A>C NP_001305756.1:p.Asn1548His
NM_001318827.2:c.4642A>C NP_001305756.1:p.Asn1548His
NM_001318829.1:c.4606A>C NP_001305758.1:p.Asn1536His
NM_001318829.2:c.4606A>C NP_001305758.1:p.Asn1536His
NM_001318831.1:c.4219A>C NP_001305760.1:p.Asn1407His
NM_001318831.2:c.4219A>C NP_001305760.1:p.Asn1407His
NM_001318832.1:c.4783A>C NP_001305761.1:p.Asn1595His
NM_001318832.2:c.4783A>C NP_001305761.1:p.Asn1595His
NM_001363528.1:c.4753A>C NP_001350457.1:p.Asn1585His
NM_001363528.2:c.4753A>C NP_001350457.1:p.Asn1585His
NM_001370404.1:c.4819A>C NP_001357333.1:p.Asn1607His
NM_001370405.1:c.4822A>C NP_001357334.1:p.Asn1608His
NM_021055.2:c.4822A>C NP_066399.2:p.Asn1608His
NM_021055.3:c.4822A>C NP_066399.2:p.Asn1608His
ENST00000219476.7:c.4951A>C ENSP00000219476.3:p.Asn1651His
ENST00000350773.8:c.4882A>C ENSP00000344383.4:p.Asn1628His
ENST00000350773.9:c.4882A>C ENSP00000344383.4:p.Asn1628His
ENST00000382538.10:c.4606A>C ENSP00000371978.6:p.Asn1536His
ENST00000401874.6:c.4750A>C ENSP00000384468.2:p.Asn1584His
ENST00000401874.7:c.4750A>C ENSP00000384468.2:p.Asn1584His
ENST00000439117.6:c.*4118A>C ENSP00000406980.2:n.*4118A>C
ENST00000439673.6:c.4642A>C ENSP00000399232.2:p.Asn1548His
ENST00000497886.5:n.2674A>C
ENST00000568454.5:c.4783A>C ENSP00000454487.1:p.Asn1595His
ENST00000568454.6:c.4783A>C ENSP00000454487.1:p.Asn1595His
ENST00000568566.6:c.*3300A>C ENSP00000455997.2:n.*3300A>C
ENST00000569110.1:c.1133A>C
ENST00000569110.2:c.1174A>C
ENST00000569930.1:n.2066A>C
ENST00000569930.2:n.2833A>C
ENST00000642206.2:c.4798A>C ENSP00000495146.2:p.Asn1600His
ENST00000642365.1:c.3605A>C
ENST00000642365.2:c.4948A>C ENSP00000495459.2:p.Asn1650His
ENST00000642561.1:c.4822A>C ENSP00000495099.1:p.Asn1608His
ENST00000642728.1:n.1133A>C
ENST00000642791.1:n.548A>C
ENST00000642797.1:c.4753A>C ENSP00000493846.1:p.Asn1585His
ENST00000642936.1:c.4819A>C ENSP00000494514.1:p.Asn1607His
ENST00000643088.1:c.4744A>C ENSP00000494747.1:p.Asn1582His
ENST00000643177.1:n.965A>C
ENST00000643426.1:n.2599A>C
ENST00000643946.1:c.4876A>C ENSP00000495927.1:p.Asn1626His
ENST00000644043.1:c.4822A>C ENSP00000496262.1:p.Asn1608His
ENST00000644278.1:n.433A>C
ENST00000644329.1:c.4750A>C ENSP00000496611.1:p.Asn1584His
ENST00000644335.1:c.4747A>C ENSP00000496317.1:p.Asn1583His
ENST00000644399.1:c.4872A>C
ENST00000644417.2:c.*5464A>C ENSP00000493912.2:n.*5464A>C
ENST00000645024.1:n.3035A>C
ENST00000646388.1:c.4945A>C ENSP00000495921.1:p.Asn1649His
ENST00000646464.2:c.*7700A>C ENSP00000496610.2:n.*7700A>C
ENST00000646557.1:n.112A>C
ENST00000646634.1:n.3766A>C
ENST00000646674.1:n.2203A>C
ENST00000647042.1:n.2174A>C
ENST00000647180.1:n.2064A>C
XM_005255529.3:c.4822A>C XP_005255586.2:p.Asn1608His
XM_005255531.3:c.4753A>C XP_005255588.2:p.Asn1585His
XM_005255531.4:c.4753A>C XP_005255588.2:p.Asn1585His
XM_011522636.1:c.5005A>C XP_011520938.1:p.Asn1669His
XM_011522636.2:c.5005A>C XP_011520938.1:p.Asn1669His
XM_011522637.1:c.5002A>C XP_011520939.1:p.Asn1668His
XM_011522637.2:c.5002A>C XP_011520939.1:p.Asn1668His
XM_011522638.1:c.4894A>C XP_011520940.1:p.Asn1632His
XM_011522638.2:c.5167A>C XP_011520940.2:p.Asn1723His
XM_011522639.1:c.4876A>C XP_011520941.1:p.Asn1626His
XM_011522639.2:c.4876A>C XP_011520941.1:p.Asn1626His
XM_011522640.1:c.4873A>C XP_011520942.1:p.Asn1625His
XM_011522640.2:c.4873A>C XP_011520942.1:p.Asn1625His
XM_011522641.1:c.4642A>C XP_011520943.1:p.Asn1548His
XM_017023615.1:c.4948A>C XP_016879104.1:p.Asn1650His
XM_017023616.1:c.4819A>C XP_016879105.1:p.Asn1607His
XM_017023617.1:c.4915A>C XP_016879106.1:p.Asn1639His
XM_017023618.1:c.3661A>C XP_016879107.1:p.Asn1221His
XM_024450413.1:c.4750A>C XP_024306181.1:p.Asn1584His