Canonical Allele Identifier: CA9846973
Community Standard Title: NM_002951.5(RPN2):c.715G>A (p.Ala239Thr)
Gene: RPN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.37207297G>A , CM000682.2:g.37207297G>A GRCh38
NC_000020.10:g.35835700G>A , CM000682.1:g.35835700G>A GRCh37
NC_000020.9:g.35269114G>A NCBI36
NG_042268.1:g.33245G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002951.5:c.715G>A MANE Select NP_002942.2:p.Ala239Thr
ENST00000237530.11:c.715G>A MANE Select ENSP00000237530.6:p.Ala239Thr
NM_001135771.1:c.619G>A NP_001129243.1:p.Ala207Thr
NM_001135771.2:c.619G>A NP_001129243.1:p.Ala207Thr
NM_001135771.3:c.619G>A NP_001129243.1:p.Ala207Thr
NM_001324299.1:c.715G>A NP_001311228.1:p.Ala239Thr
NM_001324299.2:c.715G>A NP_001311228.1:p.Ala239Thr
NM_001324301.1:c.763G>A NP_001311230.1:p.Ala255Thr
NM_001324301.2:c.763G>A NP_001311230.1:p.Ala255Thr
NM_001324302.1:c.715G>A NP_001311231.1:p.Ala239Thr
NM_001324302.2:c.715G>A NP_001311231.1:p.Ala239Thr
NM_001324303.1:c.715G>A NP_001311232.1:p.Ala239Thr
NM_001324303.2:c.715G>A NP_001311232.1:p.Ala239Thr
NM_001324304.1:c.715G>A NP_001311233.1:p.Ala239Thr
NM_001324304.2:c.715G>A NP_001311233.1:p.Ala239Thr
NM_001324305.1:c.763G>A NP_001311234.1:p.Ala255Thr
NM_001324305.2:c.763G>A NP_001311234.1:p.Ala255Thr
NM_001324306.1:c.244G>A NP_001311235.1:p.Ala82Thr
NM_001324306.2:c.244G>A NP_001311235.1:p.Ala82Thr
NM_002951.3:c.715G>A NP_002942.2:p.Ala239Thr
NM_002951.4:c.715G>A NP_002942.2:p.Ala239Thr
ENST00000237530.10:c.715G>A ENSP00000237530.6:p.Ala239Thr
ENST00000373622.9:c.619G>A ENSP00000362724.5:p.Ala207Thr
ENST00000373632.8:c.763G>A ENSP00000362735.4:p.Ala255Thr
ENST00000456102.5:c.244G>A ENSP00000399137.1:p.Ala82Thr
ENST00000462163.1:c.340G>A ENSP00000435563.1:p.Ala114Thr
ENST00000705448.1:c.715G>A ENSP00000516126.1:p.Ala239Thr
XM_005260491.1:c.715G>A XP_005260548.1:p.Ala239Thr
XM_006723849.1:c.763G>A XP_006723912.1:p.Ala255Thr
XM_006723850.1:c.763G>A XP_006723913.1:p.Ala255Thr
XM_006723851.1:c.763G>A XP_006723914.1:p.Ala255Thr
XM_006723851.3:c.763G>A XP_006723914.1:p.Ala255Thr
XM_006723852.1:c.763G>A XP_006723915.1:p.Ala255Thr
XM_006723852.3:c.763G>A XP_006723915.1:p.Ala255Thr