Linked Data
ClinVar Variation Id:
628330
ClinVar RCV Id:
RCV001460510
dbSNP Id:
rs1558663118
MyVariant Identifiers:
chr2:g.48026946T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47799807T>C , CM000664.2:g.47799807T>C | GRCh38 |
| NC_000002.11:g.48026946T>C , CM000664.1:g.48026946T>C | GRCh37 |
| NC_000002.10:g.47880450T>C | NCBI36 |
| NG_007111.1:g.21661T>C , LRG_219:g.21661T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.1527T>C (MSH6) | ENSP00000406248.2:p.Ile509= | |
| ENST00000420813.6:c.1527T>C (MSH6) | ENSP00000390382.2:p.Ile509= | |
| ENST00000455383.6:c.1527T>C (MSH6) | ENSP00000397484.2:p.Ile509= | |
| ENST00000700004.2:c.1824T>C (MSH6) | ENSP00000514752.2:p.Ile608= | |
| ENST00000699999.1:n.1908T>C (MSH6) | ||
| ENST00000700000.1:c.1606+218T>C (MSH6) | ENSP00000514749.1:n.1606+218T>C | |
| ENST00000700002.1:c.1830T>C (MSH6) | ENSP00000514750.1:p.Ile610= | |
| ENST00000700003.1:c.628-3613T>C (MSH6) | ENSP00000514751.1:n.628-3613T>C | |
| ENST00000700004.1:c.981T>C (MSH6) | ENSP00000514752.1:p.Ile327= | |
| ENST00000234420.11:c.1824T>C (MSH6) MANE Select | ENSP00000234420.5:p.Ile608= | |
| ENST00000540021.6:c.1434T>C (MSH6) | ENSP00000446475.1:p.Ile478= | |
| ENST00000652107.1:c.1527T>C (MSH6) | ENSP00000498629.1:p.Ile509= | |
| ENST00000673637.1:c.1527T>C (MSH6) | ENSP00000501310.1:p.Ile509= | |
| ENST00000234420.9:c.1824T>C (MSH6) | ENSP00000234420.4:p.Ile608= | |
| ENST00000405808.5:c.169+8388A>G (FBXO11) | ENSP00000385127.1:n.169+8388A>G | |
| ENST00000434234.5:c.*124+8187A>G (FBXO11) | ENSP00000402692.1:n.*124+8187A>G | |
| ENST00000445503.5:c.*1171T>C (MSH6) | ENSP00000405294.1:n.*1171T>C | |
| ENST00000538136.1:c.918T>C (MSH6) | ENSP00000438580.1:p.Ile306= | |
| ENST00000540021.5:c.1434T>C (MSH6) | ENSP00000446475.1:p.Ile478= | |
| ENST00000614496.4:c.918T>C (MSH6) | ENSP00000477844.1:p.Ile306= | |
| ENST00000616033.4:c.1821T>C (MSH6) | ENSP00000480261.1:p.Ile607= | |
| ENST00000622629.4:c.-1273T>C (MSH6) | ENSP00000482078.1:n.-1273T>C | |
| NM_000179.2:c.1824T>C , LRG_219t1:c.1824T>C (MSH6) | NP_000170.1:p.Ile608= | |
| NM_001281492.1:c.1434T>C (MSH6) | NP_001268421.1:p.Ile478= | |
| NM_001281493.1:c.918T>C (MSH6) | NP_001268422.1:p.Ile306= | |
| NM_001281494.1:c.918T>C (MSH6) | NP_001268423.1:p.Ile306= | |
| XM_005264271.1:c.1527T>C (MSH6) | XP_005264328.1:p.Ile509= | |
| XM_011532798.1:c.1641T>C (MSH6) | XP_011531100.1:p.Ile547= | |
| XM_011532799.1:c.1527T>C (MSH6) | XP_011531101.1:p.Ile509= | |
| XM_011532800.1:c.1527T>C (MSH6) | XP_011531102.1:p.Ile509= | |
| XM_024452819.1:c.1824T>C (MSH6) | XP_024308587.1:p.Ile608= | |
| XM_024452820.1:c.1641T>C (MSH6) | XP_024308588.1:p.Ile547= | |
| XM_024452821.1:c.1527T>C (MSH6) | XP_024308589.1:p.Ile509= | |
| XM_024452822.1:c.918T>C (MSH6) | XP_024308590.1:p.Ile306= | |
| NM_000179.3:c.1824T>C (MSH6) MANE Select | NP_000170.1:p.Ile608= | |
| NM_001281492.2:c.1434T>C (MSH6) | NP_001268421.1:p.Ile478= | |
| NM_001281493.2:c.918T>C (MSH6) | NP_001268422.1:p.Ile306= | |
| NM_001281494.2:c.918T>C (MSH6) | NP_001268423.1:p.Ile306= |