Canonical Allele Identifier: CA9847305
Community Standard Title: NM_002951.5(RPN2):c.1753+46T>A
Gene: RPN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.37234141T>A , CM000682.2:g.37234141T>A GRCh38
NC_000020.10:g.35862544T>A , CM000682.1:g.35862544T>A GRCh37
NC_000020.9:g.35295958T>A NCBI36
NG_042268.1:g.60089T>A

Transcript Alleles

HGVS Amino-acid Change
NM_002951.5:c.1753+46T>A MANE Select NP_002942.2:n.1753+46T>A
ENST00000237530.11:c.1753+46T>A MANE Select ENSP00000237530.6:n.1753+46T>A
NM_001135771.1:c.1657+46T>A NP_001129243.1:n.1657+46T>A
NM_001135771.2:c.1657+46T>A NP_001129243.1:n.1657+46T>A
NM_001135771.3:c.1657+46T>A NP_001129243.1:n.1657+46T>A
NM_001324299.1:c.1657+46T>A NP_001311228.1:n.1657+46T>A
NM_001324299.2:c.1657+46T>A NP_001311228.1:n.1657+46T>A
NM_001324301.1:c.1801+46T>A NP_001311230.1:n.1801+46T>A
NM_001324301.2:c.1801+46T>A NP_001311230.1:n.1801+46T>A
NM_001324302.1:c.1657+46T>A NP_001311231.1:n.1657+46T>A
NM_001324302.2:c.1657+46T>A NP_001311231.1:n.1657+46T>A
NM_001324303.1:c.1753+46T>A NP_001311232.1:n.1753+46T>A
NM_001324303.2:c.1753+46T>A NP_001311232.1:n.1753+46T>A
NM_001324304.1:c.1753+46T>A NP_001311233.1:n.1753+46T>A
NM_001324304.2:c.1753+46T>A NP_001311233.1:n.1753+46T>A
NM_001324305.1:c.1801+46T>A NP_001311234.1:n.1801+46T>A
NM_001324305.2:c.1801+46T>A NP_001311234.1:n.1801+46T>A
NM_001324306.1:c.1282+46T>A NP_001311235.1:n.1282+46T>A
NM_001324306.2:c.1282+46T>A NP_001311235.1:n.1282+46T>A
NM_002951.3:c.1753+46T>A NP_002942.2:n.1753+46T>A
NM_002951.4:c.1753+46T>A NP_002942.2:n.1753+46T>A
ENST00000237530.10:c.1753+46T>A ENSP00000237530.6:n.1753+46T>A
ENST00000373622.9:c.1657+46T>A ENSP00000362724.5:n.1657+46T>A
ENST00000437329.5:c.274+46T>A ENSP00000409580.1:n.274+46T>A
ENST00000456400.1:c.326+46T>A
ENST00000470352.1:n.266+46T>A
ENST00000705448.1:c.1753+46T>A ENSP00000516126.1:n.1753+46T>A
XM_005260491.1:c.1753+46T>A XP_005260548.1:n.1753+46T>A
XM_006723849.1:c.1801+46T>A XP_006723912.1:n.1801+46T>A
XM_006723850.1:c.1801+46T>A XP_006723913.1:n.1801+46T>A
XM_006723851.1:c.1705+46T>A XP_006723914.1:n.1705+46T>A
XM_006723851.3:c.1705+46T>A XP_006723914.1:n.1705+46T>A
XM_006723852.1:c.1705+46T>A XP_006723915.1:n.1705+46T>A
XM_006723852.3:c.1705+46T>A XP_006723915.1:n.1705+46T>A