Canonical Allele Identifier: CA14787393

Gene: RPN2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37234305T>C , CM000682.2:g.37234305T>C	GRCh38
NC_000020.10:g.35862708T>C , CM000682.1:g.35862708T>C	GRCh37
NC_000020.9:g.35296122T>C	NCBI36
NG_042268.1:g.60253T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002951.5:c.1753+210T>C MANE Select	NP_002942.2:n.1753+210T>C
ENST00000237530.11:c.1753+210T>C MANE Select	ENSP00000237530.6:n.1753+210T>C
NM_001135771.1:c.1657+210T>C	NP_001129243.1:n.1657+210T>C
NM_001135771.2:c.1657+210T>C	NP_001129243.1:n.1657+210T>C
NM_001135771.3:c.1657+210T>C	NP_001129243.1:n.1657+210T>C
NM_001324299.1:c.1657+210T>C	NP_001311228.1:n.1657+210T>C
NM_001324299.2:c.1657+210T>C	NP_001311228.1:n.1657+210T>C
NM_001324301.1:c.1801+210T>C	NP_001311230.1:n.1801+210T>C
NM_001324301.2:c.1801+210T>C	NP_001311230.1:n.1801+210T>C
NM_001324302.1:c.1657+210T>C	NP_001311231.1:n.1657+210T>C
NM_001324302.2:c.1657+210T>C	NP_001311231.1:n.1657+210T>C
NM_001324303.1:c.1753+210T>C	NP_001311232.1:n.1753+210T>C
NM_001324303.2:c.1753+210T>C	NP_001311232.1:n.1753+210T>C
NM_001324304.1:c.1753+210T>C	NP_001311233.1:n.1753+210T>C
NM_001324304.2:c.1753+210T>C	NP_001311233.1:n.1753+210T>C
NM_001324305.1:c.1801+210T>C	NP_001311234.1:n.1801+210T>C
NM_001324305.2:c.1801+210T>C	NP_001311234.1:n.1801+210T>C
NM_001324306.1:c.1282+210T>C	NP_001311235.1:n.1282+210T>C
NM_001324306.2:c.1282+210T>C	NP_001311235.1:n.1282+210T>C
NM_002951.3:c.1753+210T>C	NP_002942.2:n.1753+210T>C
NM_002951.4:c.1753+210T>C	NP_002942.2:n.1753+210T>C
ENST00000237530.10:c.1753+210T>C	ENSP00000237530.6:n.1753+210T>C
ENST00000373622.9:c.1657+210T>C	ENSP00000362724.5:n.1657+210T>C
ENST00000437329.5:c.274+210T>C	ENSP00000409580.1:n.274+210T>C
ENST00000456400.1:c.326+210T>C
ENST00000470352.1:n.266+210T>C
ENST00000705448.1:c.1753+210T>C	ENSP00000516126.1:n.1753+210T>C
XM_005260491.1:c.1753+210T>C	XP_005260548.1:n.1753+210T>C
XM_006723849.1:c.1801+210T>C	XP_006723912.1:n.1801+210T>C
XM_006723850.1:c.1801+210T>C	XP_006723913.1:n.1801+210T>C
XM_006723851.1:c.1705+210T>C	XP_006723914.1:n.1705+210T>C
XM_006723851.3:c.1705+210T>C	XP_006723914.1:n.1705+210T>C
XM_006723852.1:c.1705+210T>C	XP_006723915.1:n.1705+210T>C
XM_006723852.3:c.1705+210T>C	XP_006723915.1:n.1705+210T>C