Canonical Allele Identifier: CA276753382
Community Standard Title: NM_000548.5(TSC2):c.4265C>A (p.Thr1422Asn)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084487C>A , CM000678.2:g.2084487C>A GRCh38
NC_000016.9:g.2134488C>A , CM000678.1:g.2134488C>A GRCh37
NC_000016.8:g.2074489C>A NCBI36
NG_005895.1:g.40182C>A , LRG_487:g.40182C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4265C>A MANE Select NP_000539.2:p.Thr1422Asn
ENST00000219476.9:c.4265C>A MANE Select ENSP00000219476.3:p.Thr1422Asn
NM_000548.3:c.4265C>A , LRG_487t1:c.4265C>A NP_000539.2:p.Thr1422Asn
NM_000548.4:c.4265C>A NP_000539.2:p.Thr1422Asn
NM_001077183.1:c.4064C>A NP_001070651.1:p.Thr1355Asn
NM_001077183.2:c.4064C>A NP_001070651.1:p.Thr1355Asn
NM_001077183.3:c.4064C>A NP_001070651.1:p.Thr1355Asn
NM_001114382.1:c.4196C>A NP_001107854.1:p.Thr1399Asn
NM_001114382.2:c.4196C>A NP_001107854.1:p.Thr1399Asn
NM_001114382.3:c.4196C>A NP_001107854.1:p.Thr1399Asn
NM_001318827.1:c.3956C>A NP_001305756.1:p.Thr1319Asn
NM_001318827.2:c.3956C>A NP_001305756.1:p.Thr1319Asn
NM_001318829.1:c.3920C>A NP_001305758.1:p.Thr1307Asn
NM_001318829.2:c.3920C>A NP_001305758.1:p.Thr1307Asn
NM_001318831.1:c.3533C>A NP_001305760.1:p.Thr1178Asn
NM_001318831.2:c.3533C>A NP_001305760.1:p.Thr1178Asn
NM_001318832.1:c.4097C>A NP_001305761.1:p.Thr1366Asn
NM_001318832.2:c.4097C>A NP_001305761.1:p.Thr1366Asn
NM_001363528.1:c.4067C>A NP_001350457.1:p.Thr1356Asn
NM_001363528.2:c.4067C>A NP_001350457.1:p.Thr1356Asn
NM_001370404.1:c.4133C>A NP_001357333.1:p.Thr1378Asn
NM_001370405.1:c.4136C>A NP_001357334.1:p.Thr1379Asn
NM_021055.2:c.4136C>A NP_066399.2:p.Thr1379Asn
NM_021055.3:c.4136C>A NP_066399.2:p.Thr1379Asn
ENST00000219476.7:c.4265C>A ENSP00000219476.3:p.Thr1422Asn
ENST00000350773.8:c.4196C>A ENSP00000344383.4:p.Thr1399Asn
ENST00000350773.9:c.4196C>A ENSP00000344383.4:p.Thr1399Asn
ENST00000382538.10:c.3920C>A ENSP00000371978.6:p.Thr1307Asn
ENST00000401874.6:c.4064C>A ENSP00000384468.2:p.Thr1355Asn
ENST00000401874.7:c.4064C>A ENSP00000384468.2:p.Thr1355Asn
ENST00000439117.6:c.*3432C>A ENSP00000406980.2:n.*3432C>A
ENST00000439673.6:c.3956C>A ENSP00000399232.2:p.Thr1319Asn
ENST00000497886.5:n.2023C>A
ENST00000568454.5:c.4097C>A ENSP00000454487.1:p.Thr1366Asn
ENST00000568454.6:c.4097C>A ENSP00000454487.1:p.Thr1366Asn
ENST00000568566.6:c.*2614C>A ENSP00000455997.2:n.*2614C>A
ENST00000569110.1:c.447C>A
ENST00000569110.2:c.501C>A
ENST00000569930.1:n.1380C>A
ENST00000569930.2:n.2147C>A
ENST00000642206.2:c.4112C>A ENSP00000495146.2:p.Thr1371Asn
ENST00000642365.1:c.2919C>A
ENST00000642365.2:c.4262C>A ENSP00000495459.2:p.Thr1421Asn
ENST00000642561.1:c.4136C>A ENSP00000495099.1:p.Thr1379Asn
ENST00000642728.1:n.447C>A
ENST00000642797.1:c.4067C>A ENSP00000493846.1:p.Thr1356Asn
ENST00000642936.1:c.4133C>A ENSP00000494514.1:p.Thr1378Asn
ENST00000643088.1:c.4064C>A ENSP00000494747.1:p.Thr1355Asn
ENST00000643177.1:n.279C>A
ENST00000643426.1:n.1913C>A
ENST00000643946.1:c.4196C>A ENSP00000495927.1:p.Thr1399Asn
ENST00000644043.1:c.4136C>A ENSP00000496262.1:p.Thr1379Asn
ENST00000644329.1:c.4064C>A ENSP00000496611.1:p.Thr1355Asn
ENST00000644335.1:c.4067C>A ENSP00000496317.1:p.Thr1356Asn
ENST00000644399.1:c.4186C>A
ENST00000644417.2:c.*4645C>A ENSP00000493912.2:n.*4645C>A
ENST00000645024.1:n.2349C>A
ENST00000645186.1:c.508C>A
ENST00000646388.1:c.4265C>A ENSP00000495921.1:p.Thr1422Asn
ENST00000646464.2:c.*7014C>A ENSP00000496610.2:n.*7014C>A
ENST00000646634.1:n.3080C>A
ENST00000646674.1:n.1517C>A
ENST00000647042.1:n.1488C>A
ENST00000647180.1:n.1378C>A
XM_005255529.3:c.4136C>A XP_005255586.2:p.Thr1379Asn
XM_005255531.3:c.4067C>A XP_005255588.2:p.Thr1356Asn
XM_005255531.4:c.4067C>A XP_005255588.2:p.Thr1356Asn
XM_011522636.1:c.4319C>A XP_011520938.1:p.Thr1440Asn
XM_011522636.2:c.4319C>A XP_011520938.1:p.Thr1440Asn
XM_011522637.1:c.4316C>A XP_011520939.1:p.Thr1439Asn
XM_011522637.2:c.4316C>A XP_011520939.1:p.Thr1439Asn
XM_011522638.1:c.4208C>A XP_011520940.1:p.Thr1403Asn
XM_011522638.2:c.4481C>A XP_011520940.2:p.Thr1494Asn
XM_011522639.1:c.4190C>A XP_011520941.1:p.Thr1397Asn
XM_011522639.2:c.4190C>A XP_011520941.1:p.Thr1397Asn
XM_011522640.1:c.4187C>A XP_011520942.1:p.Thr1396Asn
XM_011522640.2:c.4187C>A XP_011520942.1:p.Thr1396Asn
XM_011522641.1:c.3956C>A XP_011520943.1:p.Thr1319Asn
XM_017023615.1:c.4262C>A XP_016879104.1:p.Thr1421Asn
XM_017023616.1:c.4133C>A XP_016879105.1:p.Thr1378Asn
XM_017023617.1:c.4229C>A XP_016879106.1:p.Thr1410Asn
XM_017023618.1:c.2975C>A XP_016879107.1:p.Thr992Asn
XM_024450413.1:c.4064C>A XP_024306181.1:p.Thr1355Asn