Canonical Allele Identifier: CA016060

Gene: NHP2 RMND5B

Linked Data

• ClinVar Variation Id: 4281
• ClinVar RCV Id: RCV000004502 ; RCV000032276
• dbSNP Id: rs121908090
• gnomAD v4: 5-178149799-C-T
• MyVariant Identifiers: chr5:g.177576800C>T (hg19) ; chr5:g.178149799C>T (hg38)
• PubMed: PMID:18523010 ; PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.178149799C>T , CM000667.2:g.178149799C>T	GRCh38
NC_000005.9:g.177576800C>T , CM000667.1:g.177576800C>T	GRCh37
NC_000005.8:g.177509406C>T	NCBI36
NG_011765.1:g.9162G>A , LRG_346:g.9162G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314397.9:c.270G>A (NHP2)	ENSP00000366276.2:p.Val90=
ENST00000697323.1:n.277G>A (NHP2)
ENST00000274606.8:c.376G>A (NHP2) MANE Select	ENSP00000274606.4:p.Val126Met
ENST00000313386.9:c.*1767C>T (RMND5B) MANE Select	ENSP00000320623.4:n.*1767C>T
ENST00000274606.7:c.376G>A (NHP2)	ENSP00000274606.3:p.Val126Met
ENST00000314397.8:c.270G>A (NHP2)	ENSP00000366276.2:p.Val90=
ENST00000513162.5:n.4058C>T (RMND5B)
ENST00000515098.5:c.*1767C>T (RMND5B)	ENSP00000420875.1:n.*1767C>T
NM_001034833.1:c.270G>A (NHP2)	NP_001030005.1:p.Val90=
NM_017838.3:c.376G>A , LRG_346t1:c.376G>A (NHP2)	NP_060308.1:p.Val126Met
NM_022762.5:c.*1767C>T (RMND5B) MANE Select	NP_073599.2:n.*1767C>T
NM_017838.4:c.376G>A (NHP2) MANE Select	NP_060308.1:p.Val126Met
NM_001034833.2:c.270G>A (NHP2)	NP_001030005.1:p.Val90=
NM_001288794.2:c.*1767C>T (RMND5B)	NP_001275723.1:n.*1767C>T
NM_001288795.2:c.*1767C>T (RMND5B)	NP_001275724.1:n.*1767C>T
NM_001396110.1:c.504G>A (NHP2)	NP_001383039.1:p.Val168=