Canonical Allele Identifier: CA507818513

Linked Data

MyVariant Identifiers: chr19:g.45992684C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489426C>A , CM000681.2:g.45489426C>A GRCh38
NC_000019.9:g.45992684C>A , CM000681.1:g.45992684C>A GRCh37
NC_000019.8:g.50684524C>A NCBI36
NG_032157.1:g.12628G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245923.9:c.1161G>T (RTN2) MANE Select ENSP00000245923.3:p.Leu387=
ENST00000245923.8:c.1161G>T (RTN2) ENSP00000245923.3:p.Leu387=
ENST00000344680.8:c.942G>T (RTN2) ENSP00000345127.3:p.Leu314=
ENST00000401705.5:c.-16+447C>A (PPM1N) ENSP00000384318.1:n.-16+447C>A
ENST00000430715.6:c.141G>T (RTN2) ENSP00000398178.1:p.Leu47=
ENST00000587597.5:c.1161G>T (RTN2) ENSP00000468144.1:p.Leu387=
ENST00000588036.5:n.80-440G>T (RTN2)
ENST00000589628.1:n.128G>T (RTN2)
ENST00000590526.5:c.339G>T (RTN2) ENSP00000466619.1:p.Leu113=
ENST00000590746.5:n.62-3313G>T (RTN2)
ENST00000591286.5:c.*159G>T (RTN2) ENSP00000467863.1:n.*159G>T
NM_005619.4:c.1161G>T (RTN2) NP_005610.1:p.Leu387=
NM_206900.2:c.942G>T (RTN2) NP_996783.1:p.Leu314=
NM_206901.2:c.141G>T (RTN2) NP_996784.1:p.Leu47=
NM_005619.5:c.1161G>T (RTN2) MANE Select NP_005610.1:p.Leu387=
NM_206900.3:c.942G>T (RTN2) NP_996783.1:p.Leu314=
NM_206901.3:c.141G>T (RTN2) NP_996784.1:p.Leu47=