Canonical Allele Identifier: CA9846772
Community Standard Title: NM_002951.5(RPN2):c.207+17C>T
Gene: RPN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.37184390C>T , CM000682.2:g.37184390C>T GRCh38
NC_000020.10:g.35812793C>T , CM000682.1:g.35812793C>T GRCh37
NC_000020.9:g.35246207C>T NCBI36
NG_033795.1:g.199G>A
NG_042268.1:g.10338C>T
NG_033795.2:g.159G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002951.5:c.207+17C>T MANE Select NP_002942.2:n.207+17C>T
ENST00000237530.11:c.207+17C>T MANE Select ENSP00000237530.6:n.207+17C>T
NM_001135771.1:c.207+17C>T NP_001129243.1:n.207+17C>T
NM_001135771.2:c.207+17C>T NP_001129243.1:n.207+17C>T
NM_001135771.3:c.207+17C>T NP_001129243.1:n.207+17C>T
NM_001324299.1:c.207+17C>T NP_001311228.1:n.207+17C>T
NM_001324299.2:c.207+17C>T NP_001311228.1:n.207+17C>T
NM_001324301.1:c.207+17C>T NP_001311230.1:n.207+17C>T
NM_001324301.2:c.207+17C>T NP_001311230.1:n.207+17C>T
NM_001324302.1:c.207+17C>T NP_001311231.1:n.207+17C>T
NM_001324302.2:c.207+17C>T NP_001311231.1:n.207+17C>T
NM_001324303.1:c.207+17C>T NP_001311232.1:n.207+17C>T
NM_001324303.2:c.207+17C>T NP_001311232.1:n.207+17C>T
NM_001324304.1:c.207+17C>T NP_001311233.1:n.207+17C>T
NM_001324304.2:c.207+17C>T NP_001311233.1:n.207+17C>T
NM_001324305.1:c.207+17C>T NP_001311234.1:n.207+17C>T
NM_001324305.2:c.207+17C>T NP_001311234.1:n.207+17C>T
NM_001324306.1:c.8+17C>T NP_001311235.1:n.8+17C>T
NM_001324306.2:c.8+17C>T NP_001311235.1:n.8+17C>T
NM_002951.3:c.207+17C>T NP_002942.2:n.207+17C>T
NM_002951.4:c.207+17C>T NP_002942.2:n.207+17C>T
ENST00000237530.10:c.207+17C>T ENSP00000237530.6:n.207+17C>T
ENST00000373622.9:c.207+17C>T ENSP00000362724.5:n.207+17C>T
ENST00000373632.8:c.207+17C>T ENSP00000362735.4:n.207+17C>T
ENST00000456102.5:c.8+17C>T ENSP00000399137.1:n.8+17C>T
ENST00000462163.1:c.8+17C>T ENSP00000435563.1:n.8+17C>T
ENST00000705448.1:c.207+17C>T ENSP00000516126.1:n.207+17C>T
XM_005260491.1:c.207+17C>T XP_005260548.1:n.207+17C>T
XM_006723849.1:c.207+17C>T XP_006723912.1:n.207+17C>T
XM_006723850.1:c.207+17C>T XP_006723913.1:n.207+17C>T
XM_006723851.1:c.207+17C>T XP_006723914.1:n.207+17C>T
XM_006723851.3:c.207+17C>T XP_006723914.1:n.207+17C>T
XM_006723852.1:c.207+17C>T XP_006723915.1:n.207+17C>T
XM_006723852.3:c.207+17C>T XP_006723915.1:n.207+17C>T