Linked Data
ClinVar Variation Id:
89483
dbSNP Id:
rs267608127
gnomAD v4:
2-47806581-G-GAAGT
MyVariant Identifiers:
chr2:g.48033721_48033724dupAAGT (hg19)
chr2:g.47806582_47806585dupAAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806582_47806585dup , CM000664.2:g.47806582_47806585dup | GRCh38 |
| NC_000002.11:g.48033721_48033724dup , CM000664.1:g.48033721_48033724dup | GRCh37 |
| NC_000002.10:g.47887225_47887228dup | NCBI36 |
| NG_007111.1:g.28436_28439dup , LRG_219:g.28436_28439dup | |
| NG_008397.1:g.104091_104094dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3635_3638dup (MSH6) | ENSP00000406248.2:p.Ile1214SerfsTer7 | |
| ENST00000420813.6:c.3635_3638dup (MSH6) | ENSP00000390382.2:p.Ile1214SerfsTer7 | |
| ENST00000455383.6:c.3635_3638dup (MSH6) | ENSP00000397484.2:p.Ile1214SerfsTer7 | |
| ENST00000700004.2:c.3548_3551dup (MSH6) | ENSP00000514752.2:p.Ile1185SerfsTer7 | |
| ENST00000699999.1:n.4606_4609dup (MSH6) | ||
| ENST00000700000.1:c.2366_2369dup (MSH6) | ENSP00000514749.1:p.Ile791SerfsTer7 | |
| ENST00000700002.1:c.3938_3941dup (MSH6) | ENSP00000514750.1:p.Ile1315SerfsTer7 | |
| ENST00000700003.1:c.1387_1390dup (MSH6) | ENSP00000514751.1:n.1387_1390dup | |
| ENST00000700004.1:c.2705_2708dup (MSH6) | ENSP00000514752.1:p.Ile904SerfsTer7 | |
| ENST00000700005.1:n.2783_2786dup (MSH6) | ||
| ENST00000700006.1:n.5090_5093dup (MSH6) | ||
| ENST00000700007.1:n.2527_2530dup (MSH6) | ||
| ENST00000700008.1:n.2194_2197dup (MSH6) | ||
| ENST00000700009.1:n.2596_2599dup (MSH6) | ||
| ENST00000700010.1:n.1341_1344dup (MSH6) | ||
| ENST00000700011.1:n.3226_3229dup (MSH6) | ||
| ENST00000682451.1:n.4163_4166dup (FBXO11) | ||
| ENST00000684712.1:n.4425_4428dup (FBXO11) | ||
| ENST00000234420.11:c.3932_3935dup (MSH6) MANE Select | ENSP00000234420.5:p.Ile1313SerfsTer7 | |
| ENST00000540021.6:c.3542_3545dup (MSH6) | ENSP00000446475.1:p.Ile1183SerfsTer7 | |
| ENST00000652107.1:c.3635_3638dup (MSH6) | ENSP00000498629.1:p.Ile1214SerfsTer7 | |
| ENST00000673637.1:c.3635_3638dup (MSH6) | ENSP00000501310.1:p.Ile1214SerfsTer7 | |
| ENST00000234420.9:c.3932_3935dup (MSH6) | ENSP00000234420.4:p.Ile1313SerfsTer7 | |
| ENST00000405808.5:c.169+1610_169+1613dup (FBXO11) | ENSP00000385127.1:n.169+1610_169+1613dup | |
| ENST00000434234.5:c.*124+1409_*124+1412dup (FBXO11) | ENSP00000402692.1:n.*124+1409_*124+1412dup | |
| ENST00000445503.5:c.*3279_*3282dup (MSH6) | ENSP00000405294.1:n.*3279_*3282dup | |
| ENST00000538136.1:c.3026_3029dup (MSH6) | ENSP00000438580.1:p.Ile1011SerfsTer7 | |
| ENST00000540021.5:c.3542_3545dup (MSH6) | ENSP00000446475.1:p.Ile1183SerfsTer7 | |
| ENST00000614496.4:c.3026_3029dup (MSH6) | ENSP00000477844.1:p.Ile1011SerfsTer7 | |
| ENST00000622629.4:c.833_836dup (MSH6) | ENSP00000482078.1:p.Ile280SerfsTer7 | |
| NM_000179.2:c.3932_3935dup , LRG_219t1:c.3932_3935dup (MSH6) | NP_000170.1:p.Ile1313SerfsTer7 | |
| NM_001281492.1:c.3542_3545dup (MSH6) | NP_001268421.1:p.Ile1183SerfsTer7 | |
| NM_001281493.1:c.3026_3029dup (MSH6) | NP_001268422.1:p.Ile1011SerfsTer7 | |
| NM_001281494.1:c.3026_3029dup (MSH6) | NP_001268423.1:p.Ile1011SerfsTer7 | |
| XM_005264271.1:c.3635_3638dup (MSH6) | XP_005264328.1:p.Ile1214SerfsTer7 | |
| XM_011532798.1:c.3749_3752dup (MSH6) | XP_011531100.1:p.Ile1252SerfsTer7 | |
| XM_011532799.1:c.3635_3638dup (MSH6) | XP_011531101.1:p.Ile1214SerfsTer7 | |
| XM_011532800.1:c.3635_3638dup (MSH6) | XP_011531102.1:p.Ile1214SerfsTer7 | |
| XM_024452819.1:c.4025_4028dup (MSH6) | XP_024308587.1:p.Ile1344SerfsTer7 | |
| XM_024452820.1:c.3842_3845dup (MSH6) | XP_024308588.1:p.Ile1283SerfsTer7 | |
| XM_024452821.1:c.3728_3731dup (MSH6) | XP_024308589.1:p.Ile1245SerfsTer7 | |
| XM_024452822.1:c.3119_3122dup (MSH6) | XP_024308590.1:p.Ile1042SerfsTer7 | |
| NM_000179.3:c.3932_3935dup (MSH6) MANE Select | NP_000170.1:p.Ile1313SerfsTer7 | |
| NM_001281492.2:c.3542_3545dup (MSH6) | NP_001268421.1:p.Ile1183SerfsTer7 | |
| NM_001281493.2:c.3026_3029dup (MSH6) | NP_001268422.1:p.Ile1011SerfsTer7 | |
| NM_001281494.2:c.3026_3029dup (MSH6) | NP_001268423.1:p.Ile1011SerfsTer7 |