Canonical Allele Identifier: CA9516004

Gene: RTN2 PPM1N

Linked Data

• ClinVar Variation Id: 448173
• ClinVar RCV Id: RCV000517182
• dbSNP Id: rs533022763
• ExAC: 19:45992120 C / T
• gnomAD v2: 19-45992120-C-T
• gnomAD v3: 19-45488862-C-T
• gnomAD v4: 19-45488862-C-T
• MyVariant Identifiers: chr19:g.45992120C>T (hg19) ; chr19:g.45488862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45488862C>T , CM000681.2:g.45488862C>T	GRCh38
NC_000019.9:g.45992120C>T , CM000681.1:g.45992120C>T	GRCh37
NC_000019.8:g.50683960C>T	NCBI36
NG_032157.1:g.13192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245923.9:c.1366G>A (RTN2) MANE Select	ENSP00000245923.3:p.Val456Met
ENST00000245923.8:c.1366G>A (RTN2)	ENSP00000245923.3:p.Val456Met
ENST00000344680.8:c.1147G>A (RTN2)	ENSP00000345127.3:p.Val383Met
ENST00000401705.5:c.-133C>T (PPM1N)	ENSP00000384318.1:n.-133C>T
ENST00000430715.6:c.346G>A (RTN2)	ENSP00000398178.1:p.Val116Met
ENST00000587597.5:c.1366G>A (RTN2)	ENSP00000468144.1:p.Val456Met
ENST00000588036.5:n.204G>A (RTN2)
ENST00000589628.1:n.333G>A (RTN2)
ENST00000590526.5:c.544G>A (RTN2)	ENSP00000466619.1:p.Val182Met
ENST00000590746.5:n.62-2749G>A (RTN2)
ENST00000591286.5:c.*364G>A (RTN2)	ENSP00000467863.1:n.*364G>A
ENST00000591789.1:n.112G>A (RTN2)
ENST00000593129.1:n.242G>A (RTN2)
NM_005619.4:c.1366G>A (RTN2)	NP_005610.1:p.Val456Met
NM_206900.2:c.1147G>A (RTN2)	NP_996783.1:p.Val383Met
NM_206901.2:c.346G>A (RTN2)	NP_996784.1:p.Val116Met
NM_005619.5:c.1366G>A (RTN2) MANE Select	NP_005610.1:p.Val456Met
NM_206900.3:c.1147G>A (RTN2)	NP_996783.1:p.Val383Met
NM_206901.3:c.346G>A (RTN2)	NP_996784.1:p.Val116Met