Canonical Allele Identifier: CA406357048

Gene: RTN2 PPM1N

Linked Data

• MyVariant Identifiers: chr19:g.45992755G>T (hg19) ; chr19:g.45489497G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45489497G>T , CM000681.2:g.45489497G>T	GRCh38
NC_000019.9:g.45992755G>T , CM000681.1:g.45992755G>T	GRCh37
NC_000019.8:g.50684595G>T	NCBI36
NG_032157.1:g.12557C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000245923.9:c.1090C>A (RTN2) MANE Select	ENSP00000245923.3:p.Leu364Met
ENST00000245923.8:c.1090C>A (RTN2)	ENSP00000245923.3:p.Leu364Met
ENST00000344680.8:c.871C>A (RTN2)	ENSP00000345127.3:p.Leu291Met
ENST00000401705.5:c.-16+518G>T (PPM1N)	ENSP00000384318.1:n.-16+518G>T
ENST00000430715.6:c.70C>A (RTN2)	ENSP00000398178.1:p.Leu24Met
ENST00000587597.5:c.1090C>A (RTN2)	ENSP00000468144.1:p.Leu364Met
ENST00000588036.5:n.80-511C>A (RTN2)
ENST00000589628.1:n.57C>A (RTN2)
ENST00000590526.5:c.268C>A (RTN2)	ENSP00000466619.1:p.Leu90Met
ENST00000590746.5:n.62-3384C>A (RTN2)
ENST00000591286.5:c.*88C>A (RTN2)	ENSP00000467863.1:n.*88C>A
NM_005619.4:c.1090C>A (RTN2)	NP_005610.1:p.Leu364Met
NM_206900.2:c.871C>A (RTN2)	NP_996783.1:p.Leu291Met
NM_206901.2:c.70C>A (RTN2)	NP_996784.1:p.Leu24Met
NM_005619.5:c.1090C>A (RTN2) MANE Select	NP_005610.1:p.Leu364Met
NM_206900.3:c.871C>A (RTN2)	NP_996783.1:p.Leu291Met
NM_206901.3:c.70C>A (RTN2)	NP_996784.1:p.Leu24Met