Canonical Allele Identifier: CA9516085

Gene: RTN2 PPM1N

Linked Data

• dbSNP Id: rs779389687
• ExAC: 19:45992774 T / C
• gnomAD v2: 19-45992774-T-C
• gnomAD v4: 19-45489516-T-C
• MyVariant Identifiers: chr19:g.45992774T>C (hg19) ; chr19:g.45489516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45489516T>C , CM000681.2:g.45489516T>C	GRCh38
NC_000019.9:g.45992774T>C , CM000681.1:g.45992774T>C	GRCh37
NC_000019.8:g.50684614T>C	NCBI36
NG_032157.1:g.12538A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245923.9:c.1071A>G (RTN2) MANE Select	ENSP00000245923.3:p.Ser357=
ENST00000245923.8:c.1071A>G (RTN2)	ENSP00000245923.3:p.Ser357=
ENST00000344680.8:c.852A>G (RTN2)	ENSP00000345127.3:p.Ser284=
ENST00000401705.5:c.-16+537T>C (PPM1N)	ENSP00000384318.1:n.-16+537T>C
ENST00000430715.6:c.51A>G (RTN2)	ENSP00000398178.1:p.Ser17=
ENST00000587597.5:c.1071A>G (RTN2)	ENSP00000468144.1:p.Ser357=
ENST00000588036.5:n.80-530A>G (RTN2)
ENST00000589628.1:n.38A>G (RTN2)
ENST00000590526.5:c.249A>G (RTN2)	ENSP00000466619.1:p.Ser83=
ENST00000590746.5:n.62-3403A>G (RTN2)
ENST00000591286.5:c.*69A>G (RTN2)	ENSP00000467863.1:n.*69A>G
NM_005619.4:c.1071A>G (RTN2)	NP_005610.1:p.Ser357=
NM_206900.2:c.852A>G (RTN2)	NP_996783.1:p.Ser284=
NM_206901.2:c.51A>G (RTN2)	NP_996784.1:p.Ser17=
NM_005619.5:c.1071A>G (RTN2) MANE Select	NP_005610.1:p.Ser357=
NM_206900.3:c.852A>G (RTN2)	NP_996783.1:p.Ser284=
NM_206901.3:c.51A>G (RTN2)	NP_996784.1:p.Ser17=