Canonical Allele Identifier: CA93107591

Gene: LDB2

Linked Data

• dbSNP Id: rs760204472
• gnomAD v2: 4-16602800-G-A
• gnomAD v3: 4-16601177-G-A
• gnomAD v4: 4-16601177-G-A
• MyVariant Identifiers: chr4:g.16602800G>A (hg19) ; chr4:g.16601177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.16601177G>A , CM000666.2:g.16601177G>A	GRCh38
NC_000004.11:g.16602800G>A , CM000666.1:g.16602800G>A	GRCh37
NC_000004.10:g.16211898G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000304523.10:c.236-5302C>T MANE Select	ENSP00000306772.5:n.236-5302C>T
ENST00000304523.9:c.236-5302C>T	ENSP00000306772.5:n.236-5302C>T
ENST00000441778.6:c.236-5302C>T	ENSP00000392089.2:n.236-5302C>T
ENST00000502640.5:c.236-5302C>T	ENSP00000423963.1:n.236-5302C>T
ENST00000503153.5:n.94-5302C>T
ENST00000503829.5:n.258-5302C>T
ENST00000504886.5:n.223-5302C>T
ENST00000506732.1:c.164-5302C>T	ENSP00000421767.1:n.164-5302C>T
ENST00000508804.5:n.219-5302C>T
ENST00000508918.5:c.*23-5302C>T	ENSP00000424770.1:n.*23-5302C>T
ENST00000512345.5:c.288-5302C>T	ENSP00000424676.1:n.288-5302C>T
ENST00000513457.5:n.235-5302C>T
ENST00000515064.5:c.236-5302C>T	ENSP00000422552.1:n.236-5302C>T
NM_001130834.2:c.236-5302C>T	NP_001124306.1:n.236-5302C>T
NM_001290.4:c.236-5302C>T	NP_001281.1:n.236-5302C>T
NM_001304434.1:c.236-5302C>T	NP_001291363.1:n.236-5302C>T
NM_001304435.1:c.236-5302C>T	NP_001291364.1:n.236-5302C>T
XM_005248197.2:c.236-5302C>T	XP_005248254.1:n.236-5302C>T
XM_005248201.2:c.236-5302C>T	XP_005248258.1:n.236-5302C>T
XM_005248202.2:c.236-5302C>T	XP_005248259.1:n.236-5302C>T
XM_006713975.2:c.350-5302C>T	XP_006714038.1:n.350-5302C>T
XM_006713976.2:c.350-5302C>T	XP_006714039.1:n.350-5302C>T
XM_006713977.2:c.350-5302C>T	XP_006714040.1:n.350-5302C>T
XM_006713978.2:c.350-5302C>T	XP_006714041.1:n.350-5302C>T
XM_006713979.2:c.350-5302C>T	XP_006714042.1:n.350-5302C>T
XM_006713980.2:c.350-5302C>T	XP_006714043.1:n.350-5302C>T
XM_006713981.2:c.350-5302C>T	XP_006714044.1:n.350-5302C>T
XM_006713982.2:c.350-5302C>T	XP_006714045.1:n.350-5302C>T
XM_006713983.2:c.350-5302C>T	XP_006714046.1:n.350-5302C>T
XM_011513905.1:c.11-5302C>T	XP_011512207.1:n.11-5302C>T
XM_005248197.4:c.236-5302C>T	XP_005248254.1:n.236-5302C>T
XM_005248201.3:c.236-5302C>T	XP_005248258.1:n.236-5302C>T
XM_005248202.3:c.236-5302C>T	XP_005248259.1:n.236-5302C>T
XM_006713975.4:c.350-5302C>T	XP_006714038.1:n.350-5302C>T
XM_006713976.4:c.350-5302C>T	XP_006714039.1:n.350-5302C>T
XM_006713977.4:c.350-5302C>T	XP_006714040.1:n.350-5302C>T
XM_006713978.4:c.350-5302C>T	XP_006714041.1:n.350-5302C>T
XM_006713979.4:c.350-5302C>T	XP_006714042.1:n.350-5302C>T
XM_006713980.4:c.350-5302C>T	XP_006714043.1:n.350-5302C>T
XM_006713981.4:c.350-5302C>T	XP_006714044.1:n.350-5302C>T
XM_006713982.4:c.350-5302C>T	XP_006714045.1:n.350-5302C>T
XM_006713983.4:c.350-5302C>T	XP_006714046.1:n.350-5302C>T
XM_011513905.2:c.11-5302C>T	XP_011512207.1:n.11-5302C>T
XM_017008812.2:c.350-5302C>T	XP_016864301.1:n.350-5302C>T
XM_017008813.2:c.236-5302C>T	XP_016864302.1:n.236-5302C>T
XM_017008814.2:c.350-5302C>T	XP_016864303.1:n.350-5302C>T
XM_017008815.2:c.350-5302C>T	XP_016864304.1:n.350-5302C>T
XM_017008816.2:c.350-5302C>T	XP_016864305.1:n.350-5302C>T
XM_017008817.2:c.236-5302C>T	XP_016864306.1:n.236-5302C>T
XM_017008818.1:c.107-5302C>T	XP_016864307.1:n.107-5302C>T
XM_017008819.2:c.236-5302C>T	XP_016864308.1:n.236-5302C>T
XM_017008820.2:c.236-5302C>T	XP_016864309.1:n.236-5302C>T
XM_017008821.2:c.236-5302C>T	XP_016864310.1:n.236-5302C>T
XM_017008822.1:c.-137-5302C>T	XP_016864311.1:n.-137-5302C>T
XM_024454278.1:c.236-5302C>T	XP_024310046.1:n.236-5302C>T
XM_024454279.1:c.-137-5302C>T	XP_024310047.1:n.-137-5302C>T
XM_024454280.1:c.-137-5302C>T	XP_024310048.1:n.-137-5302C>T
NM_001290.5:c.236-5302C>T MANE Select	NP_001281.1:n.236-5302C>T
NM_001130834.3:c.236-5302C>T	NP_001124306.1:n.236-5302C>T
NM_001304434.2:c.236-5302C>T	NP_001291363.1:n.236-5302C>T
NM_001304435.2:c.236-5302C>T	NP_001291364.1:n.236-5302C>T