Linked Data
ClinVar Variation Id:
30326
dbSNP Id:
rs140494585
ExAC:
19:45992745 G / A
gnomAD v2:
19-45992745-G-A
gnomAD v3:
19-45489487-G-A
gnomAD v4:
19-45489487-G-A
PubMed:
PMID:22232211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45489487G>A , CM000681.2:g.45489487G>A | GRCh38 |
| NC_000019.9:g.45992745G>A , CM000681.1:g.45992745G>A | GRCh37 |
| NC_000019.8:g.50684585G>A | NCBI36 |
| NG_032157.1:g.12567C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245923.9:c.1100C>T (RTN2) MANE Select | ENSP00000245923.3:p.Ser367Phe | |
| ENST00000245923.8:c.1100C>T (RTN2) | ENSP00000245923.3:p.Ser367Phe | |
| ENST00000344680.8:c.881C>T (RTN2) | ENSP00000345127.3:p.Ser294Phe | |
| ENST00000401705.5:c.-16+508G>A (PPM1N) | ENSP00000384318.1:n.-16+508G>A | |
| ENST00000430715.6:c.80C>T (RTN2) | ENSP00000398178.1:p.Ser27Phe | |
| ENST00000587597.5:c.1100C>T (RTN2) | ENSP00000468144.1:p.Ser367Phe | |
| ENST00000588036.5:n.80-501C>T (RTN2) | ||
| ENST00000589628.1:n.67C>T (RTN2) | ||
| ENST00000590526.5:c.278C>T (RTN2) | ENSP00000466619.1:p.Ser93Phe | |
| ENST00000590746.5:n.62-3374C>T (RTN2) | ||
| ENST00000591286.5:c.*98C>T (RTN2) | ENSP00000467863.1:n.*98C>T | |
| NM_005619.4:c.1100C>T (RTN2) | NP_005610.1:p.Ser367Phe | |
| NM_206900.2:c.881C>T (RTN2) | NP_996783.1:p.Ser294Phe | |
| NM_206901.2:c.80C>T (RTN2) | NP_996784.1:p.Ser27Phe | |
| NM_005619.5:c.1100C>T (RTN2) MANE Select | NP_005610.1:p.Ser367Phe | |
| NM_206900.3:c.881C>T (RTN2) | NP_996783.1:p.Ser294Phe | |
| NM_206901.3:c.80C>T (RTN2) | NP_996784.1:p.Ser27Phe |