Canonical Allele Identifier: CA408851073
Community Standard Title: NM_002951.5(RPN2):c.1608G>C (p.Arg536Ser)
Gene: RPN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.37232322G>C , CM000682.2:g.37232322G>C GRCh38
NC_000020.10:g.35860725G>C , CM000682.1:g.35860725G>C GRCh37
NC_000020.9:g.35294139G>C NCBI36
NG_042268.1:g.58270G>C

Transcript Alleles

HGVS Amino-acid Change
NM_002951.5:c.1608G>C MANE Select NP_002942.2:p.Arg536Ser
ENST00000237530.11:c.1608G>C MANE Select ENSP00000237530.6:p.Arg536Ser
NM_001135771.1:c.1512G>C NP_001129243.1:p.Arg504Ser
NM_001135771.2:c.1512G>C NP_001129243.1:p.Arg504Ser
NM_001135771.3:c.1512G>C NP_001129243.1:p.Arg504Ser
NM_001324299.1:c.1582-1698G>C NP_001311228.1:n.1582-1698G>C
NM_001324299.2:c.1582-1698G>C NP_001311228.1:n.1582-1698G>C
NM_001324301.1:c.1656G>C NP_001311230.1:p.Arg552Ser
NM_001324301.2:c.1656G>C NP_001311230.1:p.Arg552Ser
NM_001324302.1:c.1582-1698G>C NP_001311231.1:n.1582-1698G>C
NM_001324302.2:c.1582-1698G>C NP_001311231.1:n.1582-1698G>C
NM_001324303.1:c.1608G>C NP_001311232.1:p.Arg536Ser
NM_001324303.2:c.1608G>C NP_001311232.1:p.Arg536Ser
NM_001324304.1:c.1608G>C NP_001311233.1:p.Arg536Ser
NM_001324304.2:c.1608G>C NP_001311233.1:p.Arg536Ser
NM_001324305.1:c.1656G>C NP_001311234.1:p.Arg552Ser
NM_001324305.2:c.1656G>C NP_001311234.1:p.Arg552Ser
NM_001324306.1:c.1137G>C NP_001311235.1:p.Arg379Ser
NM_001324306.2:c.1137G>C NP_001311235.1:p.Arg379Ser
NM_002951.3:c.1608G>C NP_002942.2:p.Arg536Ser
NM_002951.4:c.1608G>C NP_002942.2:p.Arg536Ser
ENST00000237530.10:c.1608G>C ENSP00000237530.6:p.Arg536Ser
ENST00000373622.9:c.1512G>C ENSP00000362724.5:p.Arg504Ser
ENST00000437329.5:c.199-1698G>C ENSP00000409580.1:n.199-1698G>C
ENST00000456400.1:c.181G>C
ENST00000470352.1:n.191-1698G>C
ENST00000705448.1:c.1608G>C ENSP00000516126.1:p.Arg536Ser
XM_005260491.1:c.1608G>C XP_005260548.1:p.Arg536Ser
XM_006723849.1:c.1656G>C XP_006723912.1:p.Arg552Ser
XM_006723850.1:c.1656G>C XP_006723913.1:p.Arg552Ser
XM_006723851.1:c.1630-1698G>C XP_006723914.1:n.1630-1698G>C
XM_006723851.3:c.1630-1698G>C XP_006723914.1:n.1630-1698G>C
XM_006723852.1:c.1630-1698G>C XP_006723915.1:n.1630-1698G>C
XM_006723852.3:c.1630-1698G>C XP_006723915.1:n.1630-1698G>C