LDH info

Canonical Allele Identifier: CA021342
Gene: TSC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65134
ClinVar RCV Id: RCV000055347
dbSNP Id: rs397515101

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086817dup , CM000678.2:g.2086817dup GRCh38
NC_000016.9:g.2136818dup , CM000678.1:g.2136818dup GRCh37
NC_000016.8:g.2076819dup NCBI36
NG_005895.1:g.42512dup , LRG_487:g.42512dup
NG_008617.1:g.56406dup

Transcript Alleles

HGVS Amino-acid change
NM_000548.3:c.4935dup , LRG_487t1:c.4935dup NP_000539.2:p.Val1646CysfsTer7
NM_001077183.1:c.4734dup VV NP_001070651.1:p.Val1579CysfsTer7
NM_001114382.1:c.4866dup VV NP_001107854.1:p.Val1623CysfsTer7
XM_005255529.3:c.4806dup XP_005255586.2:p.Val1603CysfsTer7
XM_005255531.3:c.4737dup XP_005255588.2:p.Val1580CysfsTer7
XM_011522636.1:c.4989dup XP_011520938.1:p.Val1664CysfsTer7
XM_011522637.1:c.4986dup XP_011520939.1:p.Val1663CysfsTer7
XM_011522638.1:c.4878dup XP_011520940.1:p.Val1627CysfsTer7
XM_011522639.1:c.4860dup XP_011520941.1:p.Val1621CysfsTer7
XM_011522640.1:c.4857dup XP_011520942.1:p.Val1620CysfsTer7
XM_011522641.1:c.4626dup XP_011520943.1:p.Val1543CysfsTer7
NM_000548.4:c.4935dup VV NP_000539.2:p.Val1646CysfsTer7
NM_001077183.2:c.4734dup VV NP_001070651.1:p.Val1579CysfsTer7
NM_001114382.2:c.4866dup VV NP_001107854.1:p.Val1623CysfsTer7
NM_001318827.1:c.4626dup VV NP_001305756.1:p.Val1543CysfsTer7
NM_001318829.1:c.4590dup VV NP_001305758.1:p.Val1531CysfsTer7
NM_001318831.1:c.4203dup VV NP_001305760.1:p.Val1402CysfsTer7
NM_001318832.1:c.4767dup VV NP_001305761.1:p.Val1590CysfsTer7
NM_001363528.1:c.4737dup VV NP_001350457.1:p.Val1580CysfsTer7
NM_021055.2:c.4806dup VV NP_066399.2:p.Val1603CysfsTer7
XM_005255531.4:c.4737dup XP_005255588.2:p.Val1580CysfsTer7
XM_011522636.2:c.4989dup XP_011520938.1:p.Val1664CysfsTer7
XM_011522637.2:c.4986dup XP_011520939.1:p.Val1663CysfsTer7
XM_011522638.2:c.5151dup XP_011520940.2:p.Val1718CysfsTer7
XM_011522639.2:c.4860dup XP_011520941.1:p.Val1621CysfsTer7
XM_011522640.2:c.4857dup XP_011520942.1:p.Val1620CysfsTer7
XM_017023615.1:c.4932dup XP_016879104.1:p.Val1645CysfsTer7
XM_017023616.1:c.4803dup XP_016879105.1:p.Val1602CysfsTer7
XM_017023617.1:c.4899dup XP_016879106.1:p.Val1634CysfsTer7
XM_017023618.1:c.3645dup XP_016879107.1:p.Val1216CysfsTer7
XM_024450413.1:c.4734dup XP_024306181.1:p.Val1579CysfsTer7
NM_000548.5:c.4935dup VV MANE Preferred NP_000539.2:p.Val1646CysfsTer7
NM_001370404.1:c.4803dup VV NP_001357333.1:p.Val1602CysfsTer7
NM_001370405.1:c.4806dup VV NP_001357334.1:p.Val1603CysfsTer7
ENST00000219476.7:c.4935dup ENSP00000219476.3:p.Val1646CysfsTer7
ENST00000350773.8:c.4866dup ENSP00000344383.4:p.Val1623CysfsTer7
ENST00000382538.10:c.4590dup ENSP00000371978.6:p.Val1531CysfsTer7
ENST00000401874.6:c.4734dup ENSP00000384468.2:p.Val1579CysfsTer7
ENST00000439117.6:c.*4102dup ENSP00000406980.2:p.=
ENST00000439673.6:c.4626dup ENSP00000399232.2:p.Val1543CysfsTer7
ENST00000497886.5:n.2658dup
ENST00000568454.5:c.4767dup ENSP00000454487.1:p.Val1590CysfsTer7
ENST00000569110.1:n.1117dup
ENST00000569930.1:n.2050dup