Canonical Allele Identifier: CA11845844
Gene: LDB2 HGNC NCBI

Linked Data

dbSNP Id: rs10939673
gnomAD v2: 4-16602756-C-T
gnomAD v3: 4-16601133-C-T
gnomAD v4: 4-16601133-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.16601133C>T , CM000666.2:g.16601133C>T GRCh38
NC_000004.11:g.16602756C>T , CM000666.1:g.16602756C>T GRCh37
NC_000004.10:g.16211854C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000304523.10:c.236-5258G>A MANE Select ENSP00000306772.5:n.236-5258G>A
ENST00000304523.9:c.236-5258G>A ENSP00000306772.5:n.236-5258G>A
ENST00000441778.6:c.236-5258G>A ENSP00000392089.2:n.236-5258G>A
ENST00000502640.5:c.236-5258G>A ENSP00000423963.1:n.236-5258G>A
ENST00000503153.5:n.94-5258G>A
ENST00000503829.5:n.258-5258G>A
ENST00000504886.5:n.223-5258G>A
ENST00000506732.1:c.164-5258G>A ENSP00000421767.1:n.164-5258G>A
ENST00000508804.5:n.219-5258G>A
ENST00000508918.5:c.*23-5258G>A ENSP00000424770.1:n.*23-5258G>A
ENST00000512345.5:c.288-5258G>A ENSP00000424676.1:n.288-5258G>A
ENST00000513457.5:n.235-5258G>A
ENST00000515064.5:c.236-5258G>A ENSP00000422552.1:n.236-5258G>A
NM_001130834.2:c.236-5258G>A NP_001124306.1:n.236-5258G>A
NM_001290.4:c.236-5258G>A NP_001281.1:n.236-5258G>A
NM_001304434.1:c.236-5258G>A NP_001291363.1:n.236-5258G>A
NM_001304435.1:c.236-5258G>A NP_001291364.1:n.236-5258G>A
XM_005248197.2:c.236-5258G>A XP_005248254.1:n.236-5258G>A
XM_005248201.2:c.236-5258G>A XP_005248258.1:n.236-5258G>A
XM_005248202.2:c.236-5258G>A XP_005248259.1:n.236-5258G>A
XM_006713975.2:c.350-5258G>A XP_006714038.1:n.350-5258G>A
XM_006713976.2:c.350-5258G>A XP_006714039.1:n.350-5258G>A
XM_006713977.2:c.350-5258G>A XP_006714040.1:n.350-5258G>A
XM_006713978.2:c.350-5258G>A XP_006714041.1:n.350-5258G>A
XM_006713979.2:c.350-5258G>A XP_006714042.1:n.350-5258G>A
XM_006713980.2:c.350-5258G>A XP_006714043.1:n.350-5258G>A
XM_006713981.2:c.350-5258G>A XP_006714044.1:n.350-5258G>A
XM_006713982.2:c.350-5258G>A XP_006714045.1:n.350-5258G>A
XM_006713983.2:c.350-5258G>A XP_006714046.1:n.350-5258G>A
XM_011513905.1:c.11-5258G>A XP_011512207.1:n.11-5258G>A
XM_005248197.4:c.236-5258G>A XP_005248254.1:n.236-5258G>A
XM_005248201.3:c.236-5258G>A XP_005248258.1:n.236-5258G>A
XM_005248202.3:c.236-5258G>A XP_005248259.1:n.236-5258G>A
XM_006713975.4:c.350-5258G>A XP_006714038.1:n.350-5258G>A
XM_006713976.4:c.350-5258G>A XP_006714039.1:n.350-5258G>A
XM_006713977.4:c.350-5258G>A XP_006714040.1:n.350-5258G>A
XM_006713978.4:c.350-5258G>A XP_006714041.1:n.350-5258G>A
XM_006713979.4:c.350-5258G>A XP_006714042.1:n.350-5258G>A
XM_006713980.4:c.350-5258G>A XP_006714043.1:n.350-5258G>A
XM_006713981.4:c.350-5258G>A XP_006714044.1:n.350-5258G>A
XM_006713982.4:c.350-5258G>A XP_006714045.1:n.350-5258G>A
XM_006713983.4:c.350-5258G>A XP_006714046.1:n.350-5258G>A
XM_011513905.2:c.11-5258G>A XP_011512207.1:n.11-5258G>A
XM_017008812.2:c.350-5258G>A XP_016864301.1:n.350-5258G>A
XM_017008813.2:c.236-5258G>A XP_016864302.1:n.236-5258G>A
XM_017008814.2:c.350-5258G>A XP_016864303.1:n.350-5258G>A
XM_017008815.2:c.350-5258G>A XP_016864304.1:n.350-5258G>A
XM_017008816.2:c.350-5258G>A XP_016864305.1:n.350-5258G>A
XM_017008817.2:c.236-5258G>A XP_016864306.1:n.236-5258G>A
XM_017008818.1:c.107-5258G>A XP_016864307.1:n.107-5258G>A
XM_017008819.2:c.236-5258G>A XP_016864308.1:n.236-5258G>A
XM_017008820.2:c.236-5258G>A XP_016864309.1:n.236-5258G>A
XM_017008821.2:c.236-5258G>A XP_016864310.1:n.236-5258G>A
XM_017008822.1:c.-137-5258G>A XP_016864311.1:n.-137-5258G>A
XM_024454278.1:c.236-5258G>A XP_024310046.1:n.236-5258G>A
XM_024454279.1:c.-137-5258G>A XP_024310047.1:n.-137-5258G>A
XM_024454280.1:c.-137-5258G>A XP_024310048.1:n.-137-5258G>A
NM_001290.5:c.236-5258G>A MANE Select NP_001281.1:n.236-5258G>A
NM_001130834.3:c.236-5258G>A NP_001124306.1:n.236-5258G>A
NM_001304434.2:c.236-5258G>A NP_001291363.1:n.236-5258G>A
NM_001304435.2:c.236-5258G>A NP_001291364.1:n.236-5258G>A