Canonical Allele Identifier: CA2842242128

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489304G>A , CM000681.2:g.45489304G>A GRCh38
NC_000019.9:g.45992562G>A , CM000681.1:g.45992562G>A GRCh37
NC_000019.8:g.50684402G>A NCBI36
NG_032157.1:g.12750C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245923.9:c.1241+42C>T (RTN2) MANE Select ENSP00000245923.3:n.1241+42C>T
ENST00000245923.8:c.1241+42C>T (RTN2) ENSP00000245923.3:n.1241+42C>T
ENST00000344680.8:c.1022+42C>T (RTN2) ENSP00000345127.3:n.1022+42C>T
ENST00000401705.5:c.-16+325G>A (PPM1N) ENSP00000384318.1:n.-16+325G>A
ENST00000430715.6:c.221+42C>T (RTN2) ENSP00000398178.1:n.221+42C>T
ENST00000587597.5:c.1241+42C>T (RTN2) ENSP00000468144.1:n.1241+42C>T
ENST00000588036.5:n.80-318C>T (RTN2)
ENST00000589628.1:n.208+42C>T (RTN2)
ENST00000590526.5:c.419+42C>T (RTN2) ENSP00000466619.1:n.419+42C>T
ENST00000590746.5:n.62-3191C>T (RTN2)
ENST00000591286.5:c.*239+42C>T (RTN2) ENSP00000467863.1:n.*239+42C>T
NM_005619.4:c.1241+42C>T (RTN2) NP_005610.1:n.1241+42C>T
NM_206900.2:c.1022+42C>T (RTN2) NP_996783.1:n.1022+42C>T
NM_206901.2:c.221+42C>T (RTN2) NP_996784.1:n.221+42C>T
NM_005619.5:c.1241+42C>T (RTN2) MANE Select NP_005610.1:n.1241+42C>T
NM_206900.3:c.1022+42C>T (RTN2) NP_996783.1:n.1022+42C>T
NM_206901.3:c.221+42C>T (RTN2) NP_996784.1:n.221+42C>T