Canonical Allele Identifier: CA16042980
Gene: TSC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373082
ClinVar RCV Id: RCV000414407
dbSNP Id: rs1057518201

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2081637del , CM000678.2:g.2081637del GRCh38
NC_000016.9:g.2131638del , CM000678.1:g.2131638del GRCh37
NC_000016.8:g.2071639del NCBI36
NG_005895.1:g.37332del , LRG_487:g.37332del

Transcript Alleles

HGVS Amino-acid change
NM_000548.3:c.3653del , LRG_487t1:c.3653del NP_000539.2:p.Pro1218LeufsTer?
NM_001077183.1:c.3521del VV NP_001070651.1:p.Pro1174LeufsTer?
NM_001114382.1:c.3653del VV NP_001107854.1:p.Pro1218LeufsTer?
XM_005255529.3:c.3524del XP_005255586.2:p.Pro1175LeufsTer?
XM_005255531.3:c.3524del XP_005255588.2:p.Pro1175LeufsTer?
XM_011522636.1:c.3653del XP_011520938.1:p.Pro1218LeufsTer?
XM_011522637.1:c.3650del XP_011520939.1:p.Pro1217LeufsTer?
XM_011522638.1:c.3542del XP_011520940.1:p.Pro1181LeufsTer?
XM_011522639.1:c.3524del XP_011520941.1:p.Pro1175LeufsTer?
XM_011522640.1:c.3521del XP_011520942.1:p.Pro1174LeufsTer?
XM_011522641.1:c.3413del XP_011520943.1:p.Pro1138LeufsTer?
NM_000548.4:c.3653del VV NP_000539.2:p.Pro1218LeufsTer?
NM_001077183.2:c.3521del VV NP_001070651.1:p.Pro1174LeufsTer?
NM_001114382.2:c.3653del VV NP_001107854.1:p.Pro1218LeufsTer?
NM_001318827.1:c.3413del VV NP_001305756.1:p.Pro1138LeufsTer?
NM_001318829.1:c.3377del VV NP_001305758.1:p.Pro1126LeufsTer?
NM_001318831.1:c.2921del VV NP_001305760.1:p.Pro974LeufsTer?
NM_001318832.1:c.3554del VV NP_001305761.1:p.Pro1185LeufsTer?
NM_001363528.1:c.3524del VV NP_001350457.1:p.Pro1175LeufsTer?
NM_021055.2:c.3524del VV NP_066399.2:p.Pro1175LeufsTer?
XM_005255531.4:c.3524del XP_005255588.2:p.Pro1175LeufsTer?
XM_011522636.2:c.3653del XP_011520938.1:p.Pro1218LeufsTer?
XM_011522637.2:c.3650del XP_011520939.1:p.Pro1217LeufsTer?
XM_011522638.2:c.3815del XP_011520940.2:p.Pro1272LeufsTer?
XM_011522639.2:c.3524del XP_011520941.1:p.Pro1175LeufsTer?
XM_011522640.2:c.3521del XP_011520942.1:p.Pro1174LeufsTer?
XM_017023615.1:c.3650del XP_016879104.1:p.Pro1217LeufsTer?
XM_017023616.1:c.3521del XP_016879105.1:p.Pro1174LeufsTer?
XM_017023617.1:c.3686del XP_016879106.1:p.Pro1229LeufsTer?
XM_017023618.1:c.2309del XP_016879107.1:p.Pro770LeufsTer?
XM_024450413.1:c.3521del XP_024306181.1:p.Pro1174LeufsTer?
NM_000548.5:c.3653del VV MANE Preferred NP_000539.2:p.Pro1218LeufsTer?
ENST00000219476.7:c.3653del ENSP00000219476.3:p.Pro1218LeufsTer?
ENST00000350773.8:c.3653del ENSP00000344383.4:p.Pro1218LeufsTer?
ENST00000382538.10:c.3377del ENSP00000371978.6:p.Pro1126LeufsTer?
ENST00000401874.6:c.3521del ENSP00000384468.2:p.Pro1174LeufsTer?
ENST00000439117.6:c.*2820del ENSP00000406980.2:p.=
ENST00000439673.6:c.3413del ENSP00000399232.2:p.Pro1138LeufsTer?
ENST00000497886.5:n.1480del
ENST00000568454.5:c.3554del ENSP00000454487.1:p.Pro1185LeufsTer?