Canonical Allele Identifier: CA408843250
Community Standard Title: NM_002951.5(RPN2):c.546G>T (p.Glu182Asp)
Gene: RPN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.37203951G>T , CM000682.2:g.37203951G>T GRCh38
NC_000020.10:g.35832354G>T , CM000682.1:g.35832354G>T GRCh37
NC_000020.9:g.35265768G>T NCBI36
NG_042268.1:g.29899G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002951.5:c.546G>T MANE Select NP_002942.2:p.Glu182Asp
ENST00000237530.11:c.546G>T MANE Select ENSP00000237530.6:p.Glu182Asp
NM_001135771.1:c.450G>T NP_001129243.1:p.Glu150Asp
NM_001135771.2:c.450G>T NP_001129243.1:p.Glu150Asp
NM_001135771.3:c.450G>T NP_001129243.1:p.Glu150Asp
NM_001324299.1:c.546G>T NP_001311228.1:p.Glu182Asp
NM_001324299.2:c.546G>T NP_001311228.1:p.Glu182Asp
NM_001324301.1:c.594G>T NP_001311230.1:p.Glu198Asp
NM_001324301.2:c.594G>T NP_001311230.1:p.Glu198Asp
NM_001324302.1:c.546G>T NP_001311231.1:p.Glu182Asp
NM_001324302.2:c.546G>T NP_001311231.1:p.Glu182Asp
NM_001324303.1:c.546G>T NP_001311232.1:p.Glu182Asp
NM_001324303.2:c.546G>T NP_001311232.1:p.Glu182Asp
NM_001324304.1:c.546G>T NP_001311233.1:p.Glu182Asp
NM_001324304.2:c.546G>T NP_001311233.1:p.Glu182Asp
NM_001324305.1:c.594G>T NP_001311234.1:p.Glu198Asp
NM_001324305.2:c.594G>T NP_001311234.1:p.Glu198Asp
NM_001324306.1:c.75G>T NP_001311235.1:p.Glu25Asp
NM_001324306.2:c.75G>T NP_001311235.1:p.Glu25Asp
NM_002951.3:c.546G>T NP_002942.2:p.Glu182Asp
NM_002951.4:c.546G>T NP_002942.2:p.Glu182Asp
ENST00000237530.10:c.546G>T ENSP00000237530.6:p.Glu182Asp
ENST00000373622.9:c.450G>T ENSP00000362724.5:p.Glu150Asp
ENST00000373632.8:c.594G>T ENSP00000362735.4:p.Glu198Asp
ENST00000456102.5:c.75G>T ENSP00000399137.1:p.Glu25Asp
ENST00000462163.1:c.171G>T ENSP00000435563.1:p.Glu57Asp
ENST00000705448.1:c.546G>T ENSP00000516126.1:p.Glu182Asp
XM_005260491.1:c.546G>T XP_005260548.1:p.Glu182Asp
XM_006723849.1:c.594G>T XP_006723912.1:p.Glu198Asp
XM_006723850.1:c.594G>T XP_006723913.1:p.Glu198Asp
XM_006723851.1:c.594G>T XP_006723914.1:p.Glu198Asp
XM_006723851.3:c.594G>T XP_006723914.1:p.Glu198Asp
XM_006723852.1:c.594G>T XP_006723915.1:p.Glu198Asp
XM_006723852.3:c.594G>T XP_006723915.1:p.Glu198Asp