Canonical Allele Identifier: CA9516184

Gene: RTN2 PPM1N

Linked Data

• ClinVar Variation Id: 380937
• ClinVar RCV Id: RCV000445188 ; RCV000633075 ; RCV001848758
• dbSNP Id: rs61745812
• ExAC: 19:45997446 G / T
• gnomAD v2: 19-45997446-G-T
• gnomAD v3: 19-45494188-G-T
• gnomAD v4: 19-45494188-G-T
• MyVariant Identifiers: chr19:g.45997446G>T (hg19) ; chr19:g.45494188G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45494188G>T , CM000681.2:g.45494188G>T	GRCh38
NC_000019.9:g.45997446G>T , CM000681.1:g.45997446G>T	GRCh37
NC_000019.8:g.50689286G>T	NCBI36
NG_032157.1:g.7866C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245923.9:c.792C>A (RTN2) MANE Select	ENSP00000245923.3:p.Phe264Leu
ENST00000245923.8:c.792C>A (RTN2)	ENSP00000245923.3:p.Phe264Leu
ENST00000344680.8:c.792C>A (RTN2)	ENSP00000345127.3:p.Phe264Leu
ENST00000401705.5:c.-16+5209G>T (PPM1N)	ENSP00000384318.1:n.-16+5209G>T
ENST00000587597.5:c.792C>A (RTN2)	ENSP00000468144.1:p.Phe264Leu
ENST00000590526.5:c.-31C>A (RTN2)	ENSP00000466619.1:n.-31C>A
ENST00000591286.5:c.792C>A (RTN2)	ENSP00000467863.1:p.Phe264Leu
ENST00000592064.1:n.613C>A (RTN2)
NM_005619.4:c.792C>A (RTN2)	NP_005610.1:p.Phe264Leu
NM_206900.2:c.792C>A (RTN2)	NP_996783.1:p.Phe264Leu
NM_005619.5:c.792C>A (RTN2) MANE Select	NP_005610.1:p.Phe264Leu
NM_206900.3:c.792C>A (RTN2)	NP_996783.1:p.Phe264Leu