Canonical Allele Identifier: CA406357203

Gene: RTN2 PPM1N

Linked Data

• gnomAD v4: 19-45489527-T-C
• COSMIC: COSM439790
• MyVariant Identifiers: chr19:g.45992785T>C (hg19) ; chr19:g.45489527T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45489527T>C , CM000681.2:g.45489527T>C	GRCh38
NC_000019.9:g.45992785T>C , CM000681.1:g.45992785T>C	GRCh37
NC_000019.8:g.50684625T>C	NCBI36
NG_032157.1:g.12527A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245923.9:c.1060A>G (RTN2) MANE Select	ENSP00000245923.3:p.Thr354Ala
ENST00000245923.8:c.1060A>G (RTN2)	ENSP00000245923.3:p.Thr354Ala
ENST00000344680.8:c.841A>G (RTN2)	ENSP00000345127.3:p.Thr281Ala
ENST00000401705.5:c.-16+548T>C (PPM1N)	ENSP00000384318.1:n.-16+548T>C
ENST00000430715.6:c.40A>G (RTN2)	ENSP00000398178.1:p.Thr14Ala
ENST00000587597.5:c.1060A>G (RTN2)	ENSP00000468144.1:p.Thr354Ala
ENST00000588036.5:n.80-541A>G (RTN2)
ENST00000589628.1:n.27A>G (RTN2)
ENST00000590526.5:c.238A>G (RTN2)	ENSP00000466619.1:p.Thr80Ala
ENST00000590746.5:n.62-3414A>G (RTN2)
ENST00000591286.5:c.*58A>G (RTN2)	ENSP00000467863.1:n.*58A>G
NM_005619.4:c.1060A>G (RTN2)	NP_005610.1:p.Thr354Ala
NM_206900.2:c.841A>G (RTN2)	NP_996783.1:p.Thr281Ala
NM_206901.2:c.40A>G (RTN2)	NP_996784.1:p.Thr14Ala
NM_005619.5:c.1060A>G (RTN2) MANE Select	NP_005610.1:p.Thr354Ala
NM_206900.3:c.841A>G (RTN2)	NP_996783.1:p.Thr281Ala
NM_206901.3:c.40A>G (RTN2)	NP_996784.1:p.Thr14Ala