Canonical Allele Identifier: CA016069
Gene: NHP2 HGNC NCBI
RMND5B HGNC NCBI

Linked Data

ClinVar Variation Id: 4280
ClinVar RCV Id: RCV000004501 RCV000032277
dbSNP Id: rs121908089
gnomAD v4: 5-178149760-A-G
MyVariant Identifiers: chr5:g.177576761A>G (hg19) chr5:g.178149760A>G (hg38)
PubMed: PMID:18523010 PMID:20301779
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178149760A>G , CM000667.2:g.178149760A>G GRCh38
NC_000005.9:g.177576761A>G , CM000667.1:g.177576761A>G GRCh37
NC_000005.8:g.177509367A>G NCBI36
NG_011765.1:g.9201T>C , LRG_346:g.9201T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000314397.9:c.*36T>C (NHP2) ENSP00000366276.2:n.*36T>C
ENST00000697323.1:n.316T>C (NHP2)
ENST00000274606.8:c.415T>C (NHP2) MANE Select ENSP00000274606.4:p.Tyr139His
ENST00000313386.9:c.*1728A>G (RMND5B) MANE Select ENSP00000320623.4:n.*1728A>G
ENST00000274606.7:c.415T>C (NHP2) ENSP00000274606.3:p.Tyr139His
ENST00000314397.8:c.*36T>C (NHP2) ENSP00000366276.2:n.*36T>C
ENST00000513162.5:n.4019A>G (RMND5B)
ENST00000515098.5:c.*1728A>G (RMND5B) ENSP00000420875.1:n.*1728A>G
NM_001034833.1:c.*36T>C (NHP2) NP_001030005.1:n.*36T>C
NM_017838.3:c.415T>C , LRG_346t1:c.415T>C (NHP2) NP_060308.1:p.Tyr139His
NM_022762.5:c.*1728A>G (RMND5B) MANE Select NP_073599.2:n.*1728A>G
NM_017838.4:c.415T>C (NHP2) MANE Select NP_060308.1:p.Tyr139His
NM_001034833.2:c.*36T>C (NHP2) NP_001030005.1:n.*36T>C
NM_001288794.2:c.*1728A>G (RMND5B) NP_001275723.1:n.*1728A>G
NM_001288795.2:c.*1728A>G (RMND5B) NP_001275724.1:n.*1728A>G
NM_001396110.1:c.*36T>C (NHP2) NP_001383039.1:n.*36T>C
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