Canonical Allele Identifier: CA2362435301
Community Standard Title: NM_002951.5(RPN2):c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
Gene: MROH8 HGNC NCBI
RPN2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.37179390_37179391insACAGACAGGGCCCCGCGGCCGACACTCTT , CM000682.2:g.37179390_37179391insACAGACAGGGCCCCGCGGCCGACACTCTT GRCh38
NC_000020.10:g.35807793_35807794insACAGACAGGGCCCCGCGGCCGACACTCTT , CM000682.1:g.35807793_35807794insACAGACAGGGCCCCGCGGCCGACACTCTT GRCh37
NC_000020.9:g.35241207_35241208insACAGACAGGGCCCCGCGGCCGACACTCTT NCBI36
NG_033795.1:g.5201_5202insAGTGTCGGCCGCGGGGCCCTGTCTGTAAG
NG_042268.1:g.5338_5339insACAGACAGGGCCCCGCGGCCGACACTCTT
NG_033795.2:g.5161_5162insAGTGTCGGCCGCGGGGCCCTGTCTGTAAG

Transcript Alleles

HGVS Amino-acid Change
NM_002951.5:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) MANE Select NP_002942.2:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
ENST00000237530.11:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) MANE Select ENSP00000237530.6:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTC...
NM_001135771.1:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001129243.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001135771.2:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001129243.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001135771.3:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001129243.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001324299.1:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311228.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001324299.2:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311228.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001324301.1:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311230.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001324301.2:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311230.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001324302.1:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311231.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001324302.2:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311231.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001324303.1:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311232.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001324303.2:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311232.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001324304.1:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311233.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001324304.2:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311233.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001324305.1:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311234.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001324305.2:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311234.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_001324306.1:c.-187+21_-187+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311235.1:n.-187+21_-187+22insACAGACAGGGCCCCGCGGCCGACACT...
NM_001324306.2:c.-187+21_-187+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_001311235.1:n.-187+21_-187+22insACAGACAGGGCCCCGCGGCCGACACT...
NM_002951.3:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_002942.2:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_002951.4:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) NP_002942.2:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
ENST00000237530.10:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) ENSP00000237530.6:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTC...
ENST00000343811.10:c.93-1_93insAGTGTCGGCCGCGGGGCCCTGTCTGTAAG (MROH8)
ENST00000343811.8:c.172_173insAGTGTCGGCCGCGGGGCCCTGTCTGTAAG (MROH8)
ENST00000343811.9:n.161_162insAGTGTCGGCCGCGGGGCCCTGTCTGTAAG (MROH8)
ENST00000373622.9:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) ENSP00000362724.5:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTC...
ENST00000373632.8:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) ENSP00000362735.4:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTC...
ENST00000400440.6:c.184_185insAGTGTCGGCCGCGGGGCCCTGTCTGTAAG (MROH8)
ENST00000400440.7:c.93-1_93insAGTGTCGGCCGCGGGGCCCTGTCTGTAAG (MROH8)
ENST00000400441.7:c.93_94-1insAGTGTCGGCCGCGGGGCCCTGTCTGTAAG (MROH8) ENSP00000383291.4:p.His32SerfsTer?
ENST00000421643.1:c.201_202insAGTGTCGGCCGCGGGGCCCTGTCTGTAAG (MROH8)
ENST00000421643.2:c.93-1_93insAGTGTCGGCCGCGGGGCCCTGTCTGTAAG (MROH8)
ENST00000422138.2:c.93-1_93insAGTGTCGGCCGCGGGGCCCTGTCTGTAAG (MROH8)
ENST00000456102.5:c.-187+876_-187+877insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) ENSP00000399137.1:n.-187+876_-187+877insACAGACAGGGCCCCGCGGCCG...
ENST00000462163.1:c.-187+21_-187+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) ENSP00000435563.1:n.-187+21_-187+22insACAGACAGGGCCCCGCGGCCGAC...
ENST00000705448.1:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) ENSP00000516126.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTC...
XM_005260491.1:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) XP_005260548.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
XM_006723849.1:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) XP_006723912.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
XM_006723850.1:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) XP_006723913.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
XM_006723851.1:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) XP_006723914.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
XM_006723851.3:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) XP_006723914.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
XM_006723852.1:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) XP_006723915.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
XM_006723852.3:c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT (RPN2) XP_006723915.1:n.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
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Search 100 bp 3'