Linked Data
ClinVar Variation Id:
631178
ClinVar RCV Id:
RCV000777339
dbSNP Id:
rs1558393726
MyVariant Identifiers:
chr2:g.48033680C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806541C>T , CM000664.2:g.47806541C>T | GRCh38 |
| NC_000002.11:g.48033680C>T , CM000664.1:g.48033680C>T | GRCh37 |
| NC_000002.10:g.47887184C>T | NCBI36 |
| NG_007111.1:g.28395C>T , LRG_219:g.28395C>T | |
| NG_008397.1:g.104135G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3594C>T (MSH6) | ENSP00000406248.2:p.Ser1198= | |
| ENST00000420813.6:c.3594C>T (MSH6) | ENSP00000390382.2:p.Ser1198= | |
| ENST00000455383.6:c.3594C>T (MSH6) | ENSP00000397484.2:p.Ser1198= | |
| ENST00000700004.2:c.3507C>T (MSH6) | ENSP00000514752.2:p.Ser1169= | |
| ENST00000699999.1:n.4565C>T (MSH6) | ||
| ENST00000700000.1:c.2325C>T (MSH6) | ENSP00000514749.1:p.Ser775= | |
| ENST00000700002.1:c.3897C>T (MSH6) | ENSP00000514750.1:p.Ser1299= | |
| ENST00000700003.1:c.1346C>T (MSH6) | ENSP00000514751.1:n.1346C>T | |
| ENST00000700004.1:c.2664C>T (MSH6) | ENSP00000514752.1:p.Ser888= | |
| ENST00000700005.1:n.2742C>T (MSH6) | ||
| ENST00000700006.1:n.5049C>T (MSH6) | ||
| ENST00000700007.1:n.2486C>T (MSH6) | ||
| ENST00000700008.1:n.2153C>T (MSH6) | ||
| ENST00000700009.1:n.2555C>T (MSH6) | ||
| ENST00000700010.1:n.1300C>T (MSH6) | ||
| ENST00000700011.1:n.3185C>T (MSH6) | ||
| ENST00000682451.1:n.4207G>A (FBXO11) | ||
| ENST00000684712.1:n.4469G>A (FBXO11) | ||
| ENST00000234420.11:c.3891C>T (MSH6) MANE Select | ENSP00000234420.5:p.Ser1297= | |
| ENST00000540021.6:c.3501C>T (MSH6) | ENSP00000446475.1:p.Ser1167= | |
| ENST00000652107.1:c.3594C>T (MSH6) | ENSP00000498629.1:p.Ser1198= | |
| ENST00000673637.1:c.3594C>T (MSH6) | ENSP00000501310.1:p.Ser1198= | |
| ENST00000234420.9:c.3891C>T (MSH6) | ENSP00000234420.4:p.Ser1297= | |
| ENST00000405808.5:c.169+1654G>A (FBXO11) | ENSP00000385127.1:n.169+1654G>A | |
| ENST00000434234.5:c.*124+1453G>A (FBXO11) | ENSP00000402692.1:n.*124+1453G>A | |
| ENST00000445503.5:c.*3238C>T (MSH6) | ENSP00000405294.1:n.*3238C>T | |
| ENST00000538136.1:c.2985C>T (MSH6) | ENSP00000438580.1:p.Ser995= | |
| ENST00000540021.5:c.3501C>T (MSH6) | ENSP00000446475.1:p.Ser1167= | |
| ENST00000614496.4:c.2985C>T (MSH6) | ENSP00000477844.1:p.Ser995= | |
| ENST00000622629.4:c.792C>T (MSH6) | ENSP00000482078.1:p.Ser264= | |
| NM_000179.2:c.3891C>T , LRG_219t1:c.3891C>T (MSH6) | NP_000170.1:p.Ser1297= | |
| NM_001281492.1:c.3501C>T (MSH6) | NP_001268421.1:p.Ser1167= | |
| NM_001281493.1:c.2985C>T (MSH6) | NP_001268422.1:p.Ser995= | |
| NM_001281494.1:c.2985C>T (MSH6) | NP_001268423.1:p.Ser995= | |
| XM_005264271.1:c.3594C>T (MSH6) | XP_005264328.1:p.Ser1198= | |
| XM_011532798.1:c.3708C>T (MSH6) | XP_011531100.1:p.Ser1236= | |
| XM_011532799.1:c.3594C>T (MSH6) | XP_011531101.1:p.Ser1198= | |
| XM_011532800.1:c.3594C>T (MSH6) | XP_011531102.1:p.Ser1198= | |
| XM_024452819.1:c.3984C>T (MSH6) | XP_024308587.1:p.Ser1328= | |
| XM_024452820.1:c.3801C>T (MSH6) | XP_024308588.1:p.Ser1267= | |
| XM_024452821.1:c.3687C>T (MSH6) | XP_024308589.1:p.Ser1229= | |
| XM_024452822.1:c.3078C>T (MSH6) | XP_024308590.1:p.Ser1026= | |
| NM_000179.3:c.3891C>T (MSH6) MANE Select | NP_000170.1:p.Ser1297= | |
| NM_001281492.2:c.3501C>T (MSH6) | NP_001268421.1:p.Ser1167= | |
| NM_001281493.2:c.2985C>T (MSH6) | NP_001268422.1:p.Ser995= | |
| NM_001281494.2:c.2985C>T (MSH6) | NP_001268423.1:p.Ser995= |