Canonical Allele Identifier: CA16042979
Gene: TSC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373495
ClinVar RCV Id: RCV000414535
dbSNP Id: rs1057518448

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2079356_2079357del , CM000678.2:g.2079356_2079357del GRCh38
NC_000016.9:g.2129357_2129358del , CM000678.1:g.2129357_2129358del GRCh37
NC_000016.8:g.2069358_2069359del NCBI36
NG_005895.1:g.35051_35052del , LRG_487:g.35051_35052del

Transcript Alleles

HGVS Amino-acid change
NM_000548.3:c.3212_3213del , LRG_487t1:c.3212_3213del NP_000539.2:p.Thr1071LysfsTer?
NM_001077183.1:c.3080_3081del VV NP_001070651.1:p.Thr1027LysfsTer?
NM_001114382.1:c.3212_3213del VV NP_001107854.1:p.Thr1071LysfsTer?
XM_005255529.3:c.3083_3084del XP_005255586.2:p.Thr1028LysfsTer?
XM_005255531.3:c.3083_3084del XP_005255588.2:p.Thr1028LysfsTer?
XM_011522636.1:c.3212_3213del XP_011520938.1:p.Thr1071LysfsTer?
XM_011522637.1:c.3209_3210del XP_011520939.1:p.Thr1070LysfsTer?
XM_011522638.1:c.3101_3102del XP_011520940.1:p.Thr1034LysfsTer?
XM_011522639.1:c.3083_3084del XP_011520941.1:p.Thr1028LysfsTer?
XM_011522640.1:c.3080_3081del XP_011520942.1:p.Thr1027LysfsTer?
XM_011522641.1:c.2972_2973del XP_011520943.1:p.Thr991LysfsTer?
NM_000548.4:c.3212_3213del VV
NM_001077183.2:c.3080_3081del VV
NM_001114382.2:c.3212_3213del VV
NM_001318827.1:c.2972_2973del VV NP_001305756.1:p.Thr991LysfsTer?
NM_001318829.1:c.2936_2937del VV NP_001305758.1:p.Thr979LysfsTer?
NM_001318831.1:c.2480_2481del VV NP_001305760.1:p.Thr827LysfsTer?
NM_001318832.1:c.3113_3114del VV NP_001305761.1:p.Thr1038LysfsTer?
NM_001363528.1:c.3083_3084del VV NP_001350457.1:p.Thr1028LysfsTer?
NM_021055.2:c.3083_3084del VV NP_066399.2:p.Thr1028LysfsTer?
XM_005255531.4:c.3083_3084del
XM_011522636.2:c.3212_3213del
XM_011522637.2:c.3209_3210del
XM_011522638.2:c.3374_3375del XP_011520940.2:p.Thr1125LysfsTer?
XM_011522639.2:c.3083_3084del
XM_011522640.2:c.3080_3081del
XM_017023615.1:c.3209_3210del XP_016879104.1:p.Thr1070LysfsTer?
XM_017023616.1:c.3080_3081del XP_016879105.1:p.Thr1027LysfsTer?
XM_017023617.1:c.3245_3246del XP_016879106.1:p.Thr1082LysfsTer?
XM_017023618.1:c.1868_1869del XP_016879107.1:p.Thr623LysfsTer?
XM_024450413.1:c.3080_3081del XP_024306181.1:p.Thr1027LysfsTer?
NM_000548.5:c.3212_3213del VV MANE Preferred
ENST00000219476.7:c.3212_3213del ENSP00000219476.3:p.Thr1071LysfsTer?
ENST00000350773.8:c.3212_3213del ENSP00000344383.4:p.Thr1071LysfsTer?
ENST00000382538.10:c.2936_2937del ENSP00000371978.6:p.Thr979LysfsTer?
ENST00000401874.6:c.3080_3081del ENSP00000384468.2:p.Thr1027LysfsTer?
ENST00000439117.6:c.*2379_*2380del ENSP00000406980.2:p.=
ENST00000439673.6:c.2972_2973del ENSP00000399232.2:p.Thr991LysfsTer?
ENST00000471143.5:n.438_439del
ENST00000483020.5:n.452_453del ENSP00000460310.1:p.=
ENST00000497886.5:n.1039_1040del
ENST00000561695.1:n.437_438del
ENST00000568366.5:n.569_570del
ENST00000568454.5:c.3113_3114del ENSP00000454487.1:p.Thr1038LysfsTer?