Canonical Allele Identifier: CA016069

Gene: NHP2 RMND5B

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

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