gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31749919A>G , CM000668.2:g.31749919A>G | GRCh38 |
| NC_000006.11:g.31717696A>G , CM000668.1:g.31717696A>G | GRCh37 |
| NC_000006.10:g.31825675A>G | NCBI36 |
| NG_011611.1:g.14923A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375750.9:c.812+2487A>G (MSH5) MANE Select | ENSP00000364903.3:n.812+2487A>G | |
| ENST00000375755.8:c.812+2487A>G (MSH5) | ENSP00000364908.3:n.812+2487A>G | |
| ENST00000650702.1:n.1117+2487A>G (MSH5) | ||
| ENST00000375703.7:c.812+2487A>G (MSH5) | ENSP00000364855.3:n.812+2487A>G | |
| ENST00000375740.7:c.863+2487A>G (MSH5) | ENSP00000364892.3:n.863+2487A>G | |
| ENST00000375750.7:c.812+2487A>G (MSH5) | ENSP00000364903.3:n.812+2487A>G | |
| ENST00000375755.7:c.812+2487A>G (MSH5) | ENSP00000364908.3:n.812+2487A>G | |
| ENST00000423982.6:c.812+2487A>G (MSH5) | ENSP00000406352.2:n.812+2487A>G | |
| ENST00000450148.5:c.323+2487A>G (MSH5) | ENSP00000394971.1:n.323+2487A>G | |
| ENST00000463144.5:c.499+2487A>G (MSH5) | ||
| ENST00000493662.6:c.863+2487A>G (MSH5-SAPCD1) | ENSP00000417871.2:n.863+2487A>G | |
| ENST00000497269.5:c.151+2487A>G (MSH5) | ||
| NM_002441.4:c.812+2487A>G (MSH5) | NP_002432.1:n.812+2487A>G | |
| NM_025259.5:c.863+2487A>G (MSH5) | NP_079535.4:n.863+2487A>G | |
| NM_172165.3:c.812+2487A>G (MSH5) | NP_751897.1:n.812+2487A>G | |
| NM_172166.3:c.812+2487A>G (MSH5) | NP_751898.1:n.812+2487A>G | |
| NR_037846.1:n.991+2487A>G (MSH5-SAPCD1) | ||
| NM_172166.4:c.812+2487A>G (MSH5) MANE Select | NP_751898.1:n.812+2487A>G | |
| NM_002441.5:c.812+2487A>G (MSH5) | NP_002432.1:n.812+2487A>G | |
| NM_025259.6:c.863+2487A>G (MSH5) | NP_079535.4:n.863+2487A>G | |
| NM_172165.4:c.812+2487A>G (MSH5) | NP_751897.1:n.812+2487A>G |