Canonical Allele Identifier: CA16609780

Gene: MROH8 RPN2

Linked Data

• ClinVar Variation Id: 403105
• ClinVar RCV Id: RCV000455945
• dbSNP Id: rs1064792904
• MyVariant Identifiers: chr20:g.35807761_35807762insGGCGCCGCCGGGTGAGGAGTTGCGCGTGG (hg19) ; chr20:g.37179358_37179359insGGCGCCGCCGGGTGAGGAGTTGCGCGTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37179359_37179387dup , CM000682.2:g.37179359_37179387dup	GRCh38
NC_000020.10:g.35807762_35807790dup , CM000682.1:g.35807762_35807790dup	GRCh37
NC_000020.9:g.35241176_35241204dup	NCBI36
NG_042268.1:g.5307_5335dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343811.10:c.93_121dup (MROH8)	ENSP00000513568.1:p.His41ProfsTer?
ENST00000400440.7:c.93_121dup (MROH8)	ENSP00000513569.1:p.His41ProfsTer?
ENST00000421643.2:c.93_121dup (MROH8)	ENSP00000513570.1:p.His41ProfsTer?
ENST00000422138.2:c.93_121dup (MROH8)	ENSP00000400468.2:p.His41ProfsTer?
ENST00000705448.1:c.3_13+18dup (RPN2)
ENST00000237530.11:c.3_13+18dup (RPN2)
ENST00000343811.9:n.162_190dup (MROH8)
ENST00000237530.10:c.3_13+18dup (RPN2)
ENST00000343811.8:c.173_201dup (MROH8)
ENST00000373622.9:c.3_13+18dup (RPN2)
ENST00000373632.8:c.3_13+18dup (RPN2)
ENST00000400440.6:c.185_213dup (MROH8)
ENST00000400441.7:c.94-1_121dup (MROH8)
ENST00000421643.1:c.202_230dup (MROH8)
ENST00000456102.5:c.-187+845_-187+873dup (RPN2)	ENSP00000399137.1:n.-187+845_-187+873dup
ENST00000462163.1:c.-197_-187+18dup (RPN2)
NM_001135771.1:c.3_13+18dup (RPN2)
NM_002951.3:c.3_13+18dup (RPN2)
XM_005260491.1:c.3_13+18dup (RPN2)
XM_006723849.1:c.3_13+18dup (RPN2)
XM_006723850.1:c.3_13+18dup (RPN2)
XM_006723851.1:c.3_13+18dup (RPN2)
XM_006723852.1:c.3_13+18dup (RPN2)
NM_001135771.2:c.3_13+18dup (RPN2)
NM_001324299.1:c.3_13+18dup (RPN2)
NM_001324301.1:c.3_13+18dup (RPN2)
NM_001324302.1:c.3_13+18dup (RPN2)
NM_001324303.1:c.3_13+18dup (RPN2)
NM_001324304.1:c.3_13+18dup (RPN2)
NM_001324305.1:c.3_13+18dup (RPN2)
NM_001324306.1:c.-197_-187+18dup (RPN2)
NM_002951.4:c.3_13+18dup (RPN2)
XM_006723851.3:c.3_13+18dup (RPN2)
XM_006723852.3:c.3_13+18dup (RPN2)
NM_002951.5:c.3_13+18dup (RPN2)
NM_001324303.2:c.3_13+18dup (RPN2)
NM_001135771.3:c.3_13+18dup (RPN2)
NM_001324299.2:c.3_13+18dup (RPN2)
NM_001324301.2:c.3_13+18dup (RPN2)
NM_001324302.2:c.3_13+18dup (RPN2)
NM_001324304.2:c.3_13+18dup (RPN2)
NM_001324305.2:c.3_13+18dup (RPN2)
NM_001324306.2:c.-197_-187+18dup (RPN2)