Canonical Allele Identifier: CA406357251

Gene: RTN2 PPM1N

Linked Data

• gnomAD v4: 19-45489536-A-G
• MyVariant Identifiers: chr19:g.45992794A>G (hg19) ; chr19:g.45489536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45489536A>G , CM000681.2:g.45489536A>G	GRCh38
NC_000019.9:g.45992794A>G , CM000681.1:g.45992794A>G	GRCh37
NC_000019.8:g.50684634A>G	NCBI36
NG_032157.1:g.12518T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245923.9:c.1051T>C (RTN2) MANE Select	ENSP00000245923.3:p.Trp351Arg
ENST00000245923.8:c.1051T>C (RTN2)	ENSP00000245923.3:p.Trp351Arg
ENST00000344680.8:c.832T>C (RTN2)	ENSP00000345127.3:p.Trp278Arg
ENST00000401705.5:c.-16+557A>G (PPM1N)	ENSP00000384318.1:n.-16+557A>G
ENST00000430715.6:c.31T>C (RTN2)	ENSP00000398178.1:p.Trp11Arg
ENST00000587597.5:c.1051T>C (RTN2)	ENSP00000468144.1:p.Trp351Arg
ENST00000588036.5:n.80-550T>C (RTN2)
ENST00000589628.1:n.18T>C (RTN2)
ENST00000590526.5:c.229T>C (RTN2)	ENSP00000466619.1:p.Trp77Arg
ENST00000590746.5:n.62-3423T>C (RTN2)
ENST00000591286.5:c.*49T>C (RTN2)	ENSP00000467863.1:n.*49T>C
NM_005619.4:c.1051T>C (RTN2)	NP_005610.1:p.Trp351Arg
NM_206900.2:c.832T>C (RTN2)	NP_996783.1:p.Trp278Arg
NM_206901.2:c.31T>C (RTN2)	NP_996784.1:p.Trp11Arg
NM_005619.5:c.1051T>C (RTN2) MANE Select	NP_005610.1:p.Trp351Arg
NM_206900.3:c.832T>C (RTN2)	NP_996783.1:p.Trp278Arg
NM_206901.3:c.31T>C (RTN2)	NP_996784.1:p.Trp11Arg