Canonical Allele Identifier: CA408840445
Community Standard Title: NM_002951.5(RPN2):c.218C>T (p.Thr73Ile)
Gene: RPN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.37198407C>T , CM000682.2:g.37198407C>T GRCh38
NC_000020.10:g.35826810C>T , CM000682.1:g.35826810C>T GRCh37
NC_000020.9:g.35260224C>T NCBI36
NG_042268.1:g.24355C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002951.5:c.218C>T MANE Select NP_002942.2:p.Thr73Ile
ENST00000237530.11:c.218C>T MANE Select ENSP00000237530.6:p.Thr73Ile
NM_001135771.1:c.208-643C>T NP_001129243.1:n.208-643C>T
NM_001135771.2:c.208-643C>T NP_001129243.1:n.208-643C>T
NM_001135771.3:c.208-643C>T NP_001129243.1:n.208-643C>T
NM_001324299.1:c.218C>T NP_001311228.1:p.Thr73Ile
NM_001324299.2:c.218C>T NP_001311228.1:p.Thr73Ile
NM_001324301.1:c.218C>T NP_001311230.1:p.Thr73Ile
NM_001324301.2:c.218C>T NP_001311230.1:p.Thr73Ile
NM_001324302.1:c.218C>T NP_001311231.1:p.Thr73Ile
NM_001324302.2:c.218C>T NP_001311231.1:p.Thr73Ile
NM_001324303.1:c.218C>T NP_001311232.1:p.Thr73Ile
NM_001324303.2:c.218C>T NP_001311232.1:p.Thr73Ile
NM_001324304.1:c.218C>T NP_001311233.1:p.Thr73Ile
NM_001324304.2:c.218C>T NP_001311233.1:p.Thr73Ile
NM_001324305.1:c.218C>T NP_001311234.1:p.Thr73Ile
NM_001324305.2:c.218C>T NP_001311234.1:p.Thr73Ile
NM_001324306.1:c.9-5478C>T NP_001311235.1:n.9-5478C>T
NM_001324306.2:c.9-5478C>T NP_001311235.1:n.9-5478C>T
NM_002951.3:c.218C>T NP_002942.2:p.Thr73Ile
NM_002951.4:c.218C>T NP_002942.2:p.Thr73Ile
ENST00000237530.10:c.218C>T ENSP00000237530.6:p.Thr73Ile
ENST00000373622.9:c.208-643C>T ENSP00000362724.5:n.208-643C>T
ENST00000373632.8:c.218C>T ENSP00000362735.4:p.Thr73Ile
ENST00000456102.5:c.9-5478C>T ENSP00000399137.1:n.9-5478C>T
ENST00000462163.1:c.19C>T ENSP00000435563.1:p.Pro7Ser
ENST00000705448.1:c.218C>T ENSP00000516126.1:p.Thr73Ile
XM_005260491.1:c.218C>T XP_005260548.1:p.Thr73Ile
XM_006723849.1:c.218C>T XP_006723912.1:p.Thr73Ile
XM_006723850.1:c.218C>T XP_006723913.1:p.Thr73Ile
XM_006723851.1:c.218C>T XP_006723914.1:p.Thr73Ile
XM_006723851.3:c.218C>T XP_006723914.1:p.Thr73Ile
XM_006723852.1:c.218C>T XP_006723915.1:p.Thr73Ile
XM_006723852.3:c.218C>T XP_006723915.1:p.Thr73Ile