Canonical Allele Identifier: CA9516091

Gene: RTN2 PPM1N

Linked Data

• dbSNP Id: rs773401790
• ExAC: 19:45992798 C / T
• gnomAD v2: 19-45992798-C-T
• gnomAD v3: 19-45489540-C-T
• gnomAD v4: 19-45489540-C-T
• MyVariant Identifiers: chr19:g.45992798C>T (hg19) ; chr19:g.45489540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45489540C>T , CM000681.2:g.45489540C>T	GRCh38
NC_000019.9:g.45992798C>T , CM000681.1:g.45992798C>T	GRCh37
NC_000019.8:g.50684638C>T	NCBI36
NG_032157.1:g.12514G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245923.9:c.1047G>A (RTN2) MANE Select	ENSP00000245923.3:p.Leu349=
ENST00000245923.8:c.1047G>A (RTN2)	ENSP00000245923.3:p.Leu349=
ENST00000344680.8:c.828G>A (RTN2)	ENSP00000345127.3:p.Leu276=
ENST00000401705.5:c.-16+561C>T (PPM1N)	ENSP00000384318.1:n.-16+561C>T
ENST00000430715.6:c.27G>A (RTN2)	ENSP00000398178.1:p.Leu9=
ENST00000587597.5:c.1047G>A (RTN2)	ENSP00000468144.1:p.Leu349=
ENST00000588036.5:n.80-554G>A (RTN2)
ENST00000589628.1:n.14G>A (RTN2)
ENST00000590526.5:c.225G>A (RTN2)	ENSP00000466619.1:p.Leu75=
ENST00000590746.5:n.62-3427G>A (RTN2)
ENST00000591286.5:c.*45G>A (RTN2)	ENSP00000467863.1:n.*45G>A
NM_005619.4:c.1047G>A (RTN2)	NP_005610.1:p.Leu349=
NM_206900.2:c.828G>A (RTN2)	NP_996783.1:p.Leu276=
NM_206901.2:c.27G>A (RTN2)	NP_996784.1:p.Leu9=
NM_005619.5:c.1047G>A (RTN2) MANE Select	NP_005610.1:p.Leu349=
NM_206900.3:c.828G>A (RTN2)	NP_996783.1:p.Leu276=
NM_206901.3:c.27G>A (RTN2)	NP_996784.1:p.Leu9=