Canonical Allele Identifier: CA16043000
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372963
dbSNP Id: rs1057518103

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088445G>C , CM000678.2:g.2088445G>C GRCh38
NC_000016.9:g.2138446G>C , CM000678.1:g.2138446G>C GRCh37
NC_000016.8:g.2078447G>C NCBI36
NG_005895.1:g.44140G>C , LRG_487:g.44140G>C
NG_008617.1:g.54776C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000219476.7:c.5260-1G>C ENSP00000219476.3:p.=
ENST00000350773.8:c.5191-1G>C ENSP00000344383.4:p.=
ENST00000382538.10:c.4915-1G>C ENSP00000371978.6:p.=
ENST00000401874.6:c.5059-1G>C ENSP00000384468.2:p.=
ENST00000439117.6:c.*4427-1G>C ENSP00000406980.2:p.=
ENST00000439673.6:c.4951-1G>C ENSP00000399232.2:p.=
ENST00000568454.5:c.5092-1G>C ENSP00000454487.1:p.=
NM_000548.3:c.5260-1G>C , LRG_487t1:c.5260-1G>C NP_000539.2:p.=
NM_001077183.1:c.5059-1G>C NP_001070651.1:p.=
NM_001114382.1:c.5191-1G>C NP_001107854.1:p.=
XM_005255529.3:c.5131-1G>C XP_005255586.2:p.=
XM_005255531.3:c.5062-1G>C XP_005255588.2:p.=
XM_011522636.1:c.5314-1G>C XP_011520938.1:p.=
XM_011522637.1:c.5311-1G>C XP_011520939.1:p.=
XM_011522638.1:c.5203-1G>C XP_011520940.1:p.=
XM_011522639.1:c.5185-1G>C XP_011520941.1:p.=
XM_011522640.1:c.5182-1G>C XP_011520942.1:p.=
XM_011522641.1:c.4951-1G>C XP_011520943.1:p.=
NM_000548.4:c.5260-1G>C NP_000539.2:p.=
NM_001077183.2:c.5059-1G>C NP_001070651.1:p.=
NM_001114382.2:c.5191-1G>C NP_001107854.1:p.=
NM_001318827.1:c.4951-1G>C NP_001305756.1:p.=
NM_001318829.1:c.4915-1G>C NP_001305758.1:p.=
NM_001318831.1:c.4528-1G>C NP_001305760.1:p.=
NM_001318832.1:c.5092-1G>C NP_001305761.1:p.=
NM_001363528.1:c.5062-1G>C NP_001350457.1:p.=
NM_021055.2:c.5131-1G>C NP_066399.2:p.=
XM_005255531.4:c.5062-1G>C XP_005255588.2:p.=
XM_011522636.2:c.5314-1G>C XP_011520938.1:p.=
XM_011522637.2:c.5311-1G>C XP_011520939.1:p.=
XM_011522638.2:c.5476-1G>C XP_011520940.2:p.=
XM_011522639.2:c.5185-1G>C XP_011520941.1:p.=
XM_011522640.2:c.5182-1G>C XP_011520942.1:p.=
XM_017023615.1:c.5257-1G>C XP_016879104.1:p.=
XM_017023616.1:c.5128-1G>C XP_016879105.1:p.=
XM_017023617.1:c.5224-1G>C XP_016879106.1:p.=
XM_017023618.1:c.3970-1G>C XP_016879107.1:p.=
XM_024450413.1:c.5146-1G>C XP_024306181.1:p.=
NM_000548.5:c.5260-1G>C MANE Select NP_000539.2:p.=
NM_001370404.1:c.5128-1G>C NP_001357333.1:p.=
NM_001370405.1:c.5119-1G>C NP_001357334.1:p.=
NM_001077183.3:c.5059-1G>C NP_001070651.1:p.=
NM_001114382.3:c.5191-1G>C NP_001107854.1:p.=
NM_001318827.2:c.4951-1G>C NP_001305756.1:p.=
NM_001318829.2:c.4915-1G>C NP_001305758.1:p.=
NM_001318831.2:c.4528-1G>C NP_001305760.1:p.=
NM_001318832.2:c.5092-1G>C NP_001305761.1:p.=
NM_001363528.2:c.5062-1G>C NP_001350457.1:p.=
NM_021055.3:c.5131-1G>C NP_066399.2:p.=