Linked Data
ClinVar Variation Id:
142508
ClinVar RCV Id:
RCV000131657
RCV000214572
RCV000410793
RCV000472070
RCV000656889
RCV003467180
RCV003998114
dbSNP Id:
rs587782510
ExAC:
2:48025835 C / A
gnomAD v2:
2-48025835-C-A
gnomAD v3:
2-47798696-C-A
gnomAD v4:
2-47798696-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47798696C>A , CM000664.2:g.47798696C>A | GRCh38 |
| NC_000002.11:g.48025835C>A , CM000664.1:g.48025835C>A | GRCh37 |
| NC_000002.10:g.47879339C>A | NCBI36 |
| NG_007111.1:g.20550C>A , LRG_219:g.20550C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.416C>A (MSH6) | ENSP00000406248.2:p.Ser139Tyr | |
| ENST00000420813.6:c.416C>A (MSH6) | ENSP00000390382.2:p.Ser139Tyr | |
| ENST00000455383.6:c.416C>A (MSH6) | ENSP00000397484.2:p.Ser139Tyr | |
| ENST00000700004.2:c.713C>A (MSH6) | ENSP00000514752.2:p.Ser238Tyr | |
| ENST00000699999.1:n.797C>A (MSH6) | ||
| ENST00000700000.1:c.713C>A (MSH6) | ENSP00000514749.1:p.Ser238Tyr | |
| ENST00000700002.1:c.719C>A (MSH6) | ENSP00000514750.1:p.Ser240Tyr | |
| ENST00000700003.1:c.627+2633C>A (MSH6) | ENSP00000514751.1:n.627+2633C>A | |
| ENST00000234420.11:c.713C>A (MSH6) MANE Select | ENSP00000234420.5:p.Ser238Tyr | |
| ENST00000540021.6:c.323C>A (MSH6) | ENSP00000446475.1:p.Ser108Tyr | |
| ENST00000652107.1:c.416C>A (MSH6) | ENSP00000498629.1:p.Ser139Tyr | |
| ENST00000673637.1:c.416C>A (MSH6) | ENSP00000501310.1:p.Ser139Tyr | |
| ENST00000673922.1:n.435C>A (MSH6) | ||
| ENST00000234420.9:c.713C>A (MSH6) | ENSP00000234420.4:p.Ser238Tyr | |
| ENST00000405808.5:c.170-9256G>T (FBXO11) | ENSP00000385127.1:n.170-9256G>T | |
| ENST00000411819.1:c.416C>A (MSH6) | ENSP00000406248.1:p.Ser139Tyr | |
| ENST00000434234.5:c.*125-9256G>T (FBXO11) | ENSP00000402692.1:n.*125-9256G>T | |
| ENST00000445503.5:c.*60C>A (MSH6) | ENSP00000405294.1:n.*60C>A | |
| ENST00000456246.1:c.*201C>A (MSH6) | ENSP00000410570.1:n.*201C>A | |
| ENST00000538136.1:c.-194C>A (MSH6) | ENSP00000438580.1:n.-194C>A | |
| ENST00000540021.5:c.323C>A (MSH6) | ENSP00000446475.1:p.Ser108Tyr | |
| ENST00000614496.4:c.-194C>A (MSH6) | ENSP00000477844.1:n.-194C>A | |
| ENST00000616033.4:c.710C>A (MSH6) | ENSP00000480261.1:p.Ser237Tyr | |
| ENST00000622629.4:c.-2384C>A (MSH6) | ENSP00000482078.1:n.-2384C>A | |
| NM_000179.2:c.713C>A , LRG_219t1:c.713C>A (MSH6) | NP_000170.1:p.Ser238Tyr | |
| NM_001281492.1:c.323C>A (MSH6) | NP_001268421.1:p.Ser108Tyr | |
| NM_001281493.1:c.-194C>A (MSH6) | NP_001268422.1:n.-194C>A | |
| NM_001281494.1:c.-194C>A (MSH6) | NP_001268423.1:n.-194C>A | |
| XM_005264271.1:c.416C>A (MSH6) | XP_005264328.1:p.Ser139Tyr | |
| XM_011532798.1:c.530C>A (MSH6) | XP_011531100.1:p.Ser177Tyr | |
| XM_011532799.1:c.416C>A (MSH6) | XP_011531101.1:p.Ser139Tyr | |
| XM_011532800.1:c.416C>A (MSH6) | XP_011531102.1:p.Ser139Tyr | |
| XM_024452819.1:c.713C>A (MSH6) | XP_024308587.1:p.Ser238Tyr | |
| XM_024452820.1:c.530C>A (MSH6) | XP_024308588.1:p.Ser177Tyr | |
| XM_024452821.1:c.416C>A (MSH6) | XP_024308589.1:p.Ser139Tyr | |
| XM_024452822.1:c.-194C>A (MSH6) | XP_024308590.1:n.-194C>A | |
| NM_000179.3:c.713C>A (MSH6) MANE Select | NP_000170.1:p.Ser238Tyr | |
| NM_001281492.2:c.323C>A (MSH6) | NP_001268421.1:p.Ser108Tyr | |
| NM_001281493.2:c.-194C>A (MSH6) | NP_001268422.1:n.-194C>A | |
| NM_001281494.2:c.-194C>A (MSH6) | NP_001268423.1:n.-194C>A |