Canonical Allele Identifier: CA9847107

Gene: RPN2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37223932G>A , CM000682.2:g.37223932G>A	GRCh38
NC_000020.10:g.35852335G>A , CM000682.1:g.35852335G>A	GRCh37
NC_000020.9:g.35285749G>A	NCBI36
NG_042268.1:g.49880G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002951.5:c.1147G>A MANE Select	NP_002942.2:p.Val383Met
ENST00000237530.11:c.1147G>A MANE Select	ENSP00000237530.6:p.Val383Met
NM_001135771.1:c.1051G>A	NP_001129243.1:p.Val351Met
NM_001135771.2:c.1051G>A	NP_001129243.1:p.Val351Met
NM_001135771.3:c.1051G>A	NP_001129243.1:p.Val351Met
NM_001324299.1:c.1147G>A	NP_001311228.1:p.Val383Met
NM_001324299.2:c.1147G>A	NP_001311228.1:p.Val383Met
NM_001324301.1:c.1195G>A	NP_001311230.1:p.Val399Met
NM_001324301.2:c.1195G>A	NP_001311230.1:p.Val399Met
NM_001324302.1:c.1147G>A	NP_001311231.1:p.Val383Met
NM_001324302.2:c.1147G>A	NP_001311231.1:p.Val383Met
NM_001324303.1:c.1147G>A	NP_001311232.1:p.Val383Met
NM_001324303.2:c.1147G>A	NP_001311232.1:p.Val383Met
NM_001324304.1:c.1147G>A	NP_001311233.1:p.Val383Met
NM_001324304.2:c.1147G>A	NP_001311233.1:p.Val383Met
NM_001324305.1:c.1195G>A	NP_001311234.1:p.Val399Met
NM_001324305.2:c.1195G>A	NP_001311234.1:p.Val399Met
NM_001324306.1:c.676G>A	NP_001311235.1:p.Val226Met
NM_001324306.2:c.676G>A	NP_001311235.1:p.Val226Met
NM_002951.3:c.1147G>A	NP_002942.2:p.Val383Met
NM_002951.4:c.1147G>A	NP_002942.2:p.Val383Met
ENST00000237530.10:c.1147G>A	ENSP00000237530.6:p.Val383Met
ENST00000373622.9:c.1051G>A	ENSP00000362724.5:p.Val351Met
ENST00000705448.1:c.1147G>A	ENSP00000516126.1:p.Val383Met
XM_005260491.1:c.1147G>A	XP_005260548.1:p.Val383Met
XM_006723849.1:c.1195G>A	XP_006723912.1:p.Val399Met
XM_006723850.1:c.1195G>A	XP_006723913.1:p.Val399Met
XM_006723851.1:c.1195G>A	XP_006723914.1:p.Val399Met
XM_006723851.3:c.1195G>A	XP_006723914.1:p.Val399Met
XM_006723852.1:c.1195G>A	XP_006723915.1:p.Val399Met
XM_006723852.3:c.1195G>A	XP_006723915.1:p.Val399Met