Canonical Allele Identifier: CA3589122

Gene: NHP2 RMND5B

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.178149823C>T , CM000667.2:g.178149823C>T	GRCh38
NC_000005.9:g.177576824C>T , CM000667.1:g.177576824C>T	GRCh37
NC_000005.8:g.177509430C>T	NCBI36
NG_011765.1:g.9138G>A , LRG_346:g.9138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314397.9:c.246G>A (NHP2)	ENSP00000366276.2:p.Pro82=
ENST00000697323.1:n.253G>A (NHP2)
ENST00000274606.8:c.352G>A (NHP2) MANE Select	ENSP00000274606.4:p.Ala118Thr
ENST00000313386.9:c.*1791C>T (RMND5B) MANE Select	ENSP00000320623.4:n.*1791C>T
ENST00000274606.7:c.352G>A (NHP2)	ENSP00000274606.3:p.Ala118Thr
ENST00000314397.8:c.246G>A (NHP2)	ENSP00000366276.2:p.Pro82=
ENST00000513162.5:n.4082C>T (RMND5B)
ENST00000515098.5:c.*1791C>T (RMND5B)	ENSP00000420875.1:n.*1791C>T
NM_001034833.1:c.246G>A (NHP2)	NP_001030005.1:p.Pro82=
NM_017838.3:c.352G>A , LRG_346t1:c.352G>A (NHP2)	NP_060308.1:p.Ala118Thr
NM_022762.5:c.*1791C>T (RMND5B) MANE Select	NP_073599.2:n.*1791C>T
NM_017838.4:c.352G>A (NHP2) MANE Select	NP_060308.1:p.Ala118Thr
NM_001034833.2:c.246G>A (NHP2)	NP_001030005.1:p.Pro82=
NM_001288794.2:c.*1791C>T (RMND5B)	NP_001275723.1:n.*1791C>T
NM_001288795.2:c.*1791C>T (RMND5B)	NP_001275724.1:n.*1791C>T
NM_001396110.1:c.480G>A (NHP2)	NP_001383039.1:p.Pro160=