LDH info

Canonical Allele Identifier: CA020622
Gene: TSC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 49505
dbSNP Id: rs137854028

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084994del , CM000678.2:g.2084994del GRCh38
NC_000016.9:g.2134995del , CM000678.1:g.2134995del GRCh37
NC_000016.8:g.2074996del NCBI36
NG_005895.1:g.40689del , LRG_487:g.40689del

Transcript Alleles

HGVS Amino-acid change
NM_000548.3:c.4537del , LRG_487t1:c.4537del NP_000539.2:p.Glu1513SerfsTer?
NM_001077183.1:c.4336del VV NP_001070651.1:p.Glu1446SerfsTer?
NM_001114382.1:c.4468del VV NP_001107854.1:p.Glu1490SerfsTer?
XM_005255529.3:c.4408del XP_005255586.2:p.Glu1470SerfsTer?
XM_005255531.3:c.4339del XP_005255588.2:p.Glu1447SerfsTer?
XM_011522636.1:c.4591del XP_011520938.1:p.Glu1531SerfsTer?
XM_011522637.1:c.4588del XP_011520939.1:p.Glu1530SerfsTer?
XM_011522638.1:c.4480del XP_011520940.1:p.Glu1494SerfsTer?
XM_011522639.1:c.4462del XP_011520941.1:p.Glu1488SerfsTer?
XM_011522640.1:c.4459del XP_011520942.1:p.Glu1487SerfsTer?
XM_011522641.1:c.4228del XP_011520943.1:p.Glu1410SerfsTer?
NM_000548.4:c.4537del VV NP_000539.2:p.Glu1513SerfsTer?
NM_001077183.2:c.4336del VV NP_001070651.1:p.Glu1446SerfsTer?
NM_001114382.2:c.4468del VV NP_001107854.1:p.Glu1490SerfsTer?
NM_001318827.1:c.4228del VV NP_001305756.1:p.Glu1410SerfsTer?
NM_001318829.1:c.4192del VV NP_001305758.1:p.Glu1398SerfsTer?
NM_001318831.1:c.3805del VV NP_001305760.1:p.Glu1269SerfsTer?
NM_001318832.1:c.4369del VV NP_001305761.1:p.Glu1457SerfsTer?
NM_001363528.1:c.4339del VV NP_001350457.1:p.Glu1447SerfsTer?
NM_021055.2:c.4408del VV NP_066399.2:p.Glu1470SerfsTer?
XM_005255531.4:c.4339del XP_005255588.2:p.Glu1447SerfsTer?
XM_011522636.2:c.4591del XP_011520938.1:p.Glu1531SerfsTer?
XM_011522637.2:c.4588del XP_011520939.1:p.Glu1530SerfsTer?
XM_011522638.2:c.4753del XP_011520940.2:p.Glu1585SerfsTer?
XM_011522639.2:c.4462del XP_011520941.1:p.Glu1488SerfsTer?
XM_011522640.2:c.4459del XP_011520942.1:p.Glu1487SerfsTer?
XM_017023615.1:c.4534del XP_016879104.1:p.Glu1512SerfsTer?
XM_017023616.1:c.4405del XP_016879105.1:p.Glu1469SerfsTer?
XM_017023617.1:c.4501del XP_016879106.1:p.Glu1501SerfsTer?
XM_017023618.1:c.3247del XP_016879107.1:p.Glu1083SerfsTer?
XM_024450413.1:c.4336del XP_024306181.1:p.Glu1446SerfsTer?
NM_000548.5:c.4537del VV MANE Preferred NP_000539.2:p.Glu1513SerfsTer?
ENST00000219476.7:c.4537del ENSP00000219476.3:p.Glu1513SerfsTer?
ENST00000350773.8:c.4468del ENSP00000344383.4:p.Glu1490SerfsTer?
ENST00000382538.10:c.4192del ENSP00000371978.6:p.Glu1398SerfsTer?
ENST00000401874.6:c.4336del ENSP00000384468.2:p.Glu1446SerfsTer?
ENST00000439117.6:c.*3704del ENSP00000406980.2:p.=
ENST00000439673.6:c.4228del ENSP00000399232.2:p.Glu1410SerfsTer?
ENST00000497886.5:n.2295del
ENST00000568454.5:c.4369del ENSP00000454487.1:p.Glu1457SerfsTer?
ENST00000569110.1:n.719del
ENST00000569930.1:n.1652del