Canonical Allele Identifier: CA507818725

Linked Data

MyVariant Identifiers: chr19:g.45992801C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489543C>T , CM000681.2:g.45489543C>T GRCh38
NC_000019.9:g.45992801C>T , CM000681.1:g.45992801C>T GRCh37
NC_000019.8:g.50684641C>T NCBI36
NG_032157.1:g.12511G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245923.9:c.1044G>A (RTN2) MANE Select ENSP00000245923.3:p.Leu348=
ENST00000245923.8:c.1044G>A (RTN2) ENSP00000245923.3:p.Leu348=
ENST00000344680.8:c.825G>A (RTN2) ENSP00000345127.3:p.Leu275=
ENST00000401705.5:c.-16+564C>T (PPM1N) ENSP00000384318.1:n.-16+564C>T
ENST00000430715.6:c.24G>A (RTN2) ENSP00000398178.1:p.Leu8=
ENST00000587597.5:c.1044G>A (RTN2) ENSP00000468144.1:p.Leu348=
ENST00000588036.5:n.80-557G>A (RTN2)
ENST00000589628.1:n.11G>A (RTN2)
ENST00000590526.5:c.222G>A (RTN2) ENSP00000466619.1:p.Leu74=
ENST00000590746.5:n.62-3430G>A (RTN2)
ENST00000591286.5:c.*42G>A (RTN2) ENSP00000467863.1:n.*42G>A
NM_005619.4:c.1044G>A (RTN2) NP_005610.1:p.Leu348=
NM_206900.2:c.825G>A (RTN2) NP_996783.1:p.Leu275=
NM_206901.2:c.24G>A (RTN2) NP_996784.1:p.Leu8=
NM_005619.5:c.1044G>A (RTN2) MANE Select NP_005610.1:p.Leu348=
NM_206900.3:c.825G>A (RTN2) NP_996783.1:p.Leu275=
NM_206901.3:c.24G>A (RTN2) NP_996784.1:p.Leu8=