Canonical Allele Identifier: CA9516115

Gene: RTN2 PPM1N

Linked Data

• ClinVar Variation Id: 329550
• ClinVar RCV Id: RCV000269406 ; RCV001850768 ; RCV003409524 ; RCV002523071
• dbSNP Id: rs145653668
• ExAC: 19:45996465 C / T
• gnomAD v2: 19-45996465-C-T
• gnomAD v3: 19-45493207-C-T
• gnomAD v4: 19-45493207-C-T
• MyVariant Identifiers: chr19:g.45996465C>T (hg19) ; chr19:g.45493207C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45493207C>T , CM000681.2:g.45493207C>T	GRCh38
NC_000019.9:g.45996465C>T , CM000681.1:g.45996465C>T	GRCh37
NC_000019.8:g.50688305C>T	NCBI36
NG_032157.1:g.8847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245923.9:c.986G>A (RTN2) MANE Select	ENSP00000245923.3:p.Ser329Asn
ENST00000245923.8:c.986G>A (RTN2)	ENSP00000245923.3:p.Ser329Asn
ENST00000344680.8:c.814+959G>A (RTN2)	ENSP00000345127.3:n.814+959G>A
ENST00000401705.5:c.-16+4228C>T (PPM1N)	ENSP00000384318.1:n.-16+4228C>T
ENST00000430715.6:c.-35G>A (RTN2)	ENSP00000398178.1:n.-35G>A
ENST00000587597.5:c.986G>A (RTN2)	ENSP00000468144.1:p.Ser329Asn
ENST00000588036.5:n.32G>A (RTN2)
ENST00000590526.5:c.164G>A (RTN2)	ENSP00000466619.1:p.Ser55Asn
ENST00000590746.5:n.14G>A (RTN2)
ENST00000591286.5:c.*31+911G>A (RTN2)	ENSP00000467863.1:n.*31+911G>A
NM_005619.4:c.986G>A (RTN2)	NP_005610.1:p.Ser329Asn
NM_206900.2:c.814+959G>A (RTN2)	NP_996783.1:n.814+959G>A
NM_206901.2:c.-35G>A (RTN2)	NP_996784.1:n.-35G>A
NM_005619.5:c.986G>A (RTN2) MANE Select	NP_005610.1:p.Ser329Asn
NM_206900.3:c.814+959G>A (RTN2)	NP_996783.1:n.814+959G>A
NM_206901.3:c.-35G>A (RTN2)	NP_996784.1:n.-35G>A