Linked Data
ClinVar Variation Id:
8937
ClinVar RCV Id:
RCV000009492
MyVariant Identifiers:
chr2:g.48026695_48031620dup (hg19)
chr2:g.48026695_48031620dup4926 (hg19)
chr2:g.47799556_47804481dup (hg38)
chr2:g.47799556_47804481dup4926 (hg38)
PubMed:
PMID:12920072
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47799557_47804482dup , CM000664.2:g.47799557_47804482dup | GRCh38 |
| NC_000002.11:g.48026696_48031621dup , CM000664.1:g.48026696_48031621dup | GRCh37 |
| NC_000002.10:g.47880200_47885125dup | NCBI36 |
| NG_007111.1:g.21411_26336dup , LRG_219:g.21411_26336dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.1277_3142-428dup (MSH6) | ||
| ENST00000420813.6:c.1277_3142-428dup (MSH6) | ||
| ENST00000455383.6:c.1277_3142-428dup (MSH6) | ||
| ENST00000700004.2:c.1574_3173-1136dup (MSH6) | ||
| ENST00000699999.1:n.1658_3523-428dup (MSH6) | ||
| ENST00000700000.1:c.1574_1873-428dup (MSH6) | ||
| ENST00000700002.1:c.1580_3445-428dup (MSH6) | ||
| ENST00000700003.1:c.627+3494_894-428dup (MSH6) | ||
| ENST00000700004.1:c.731_2330-1136dup (MSH6) | ||
| ENST00000234420.11:c.1574_3439-428dup (MSH6) | ||
| ENST00000540021.6:c.1184_3049-428dup (MSH6) | ||
| ENST00000652107.1:c.1277_3142-428dup (MSH6) | ||
| ENST00000673637.1:c.1277_3142-428dup (MSH6) | ||
| ENST00000234420.9:c.1574_3439-428dup (MSH6) | ||
| ENST00000405808.5:c.169+3714_169+8639dup (FBXO11) | ENSP00000385127.1:n.169+3714_169+8639dup | |
| ENST00000434234.5:c.*124+3513_*124+8438dup (FBXO11) | ENSP00000402692.1:n.*124+3513_*124+8438du... | |
| ENST00000445503.5:c.*921_*2786-428dup (MSH6) | ||
| ENST00000538136.1:c.668_2533-428dup (MSH6) | ||
| ENST00000540021.5:c.1184_3049-428dup (MSH6) | ||
| ENST00000614496.4:c.668_2533-428dup (MSH6) | ||
| ENST00000622629.4:c.-1523_335-420dup (MSH6) | ||
| NM_000179.2:c.1574_3439-428dup , LRG_219t1:c.1574_3439-428dup (MSH6) | ||
| NM_001281492.1:c.1184_3049-428dup (MSH6) | ||
| NM_001281493.1:c.668_2533-428dup (MSH6) | ||
| NM_001281494.1:c.668_2533-428dup (MSH6) | ||
| XM_005264271.1:c.1277_3142-428dup (MSH6) | ||
| XM_011532798.1:c.1391_3256-428dup (MSH6) | ||
| XM_011532799.1:c.1277_3142-428dup (MSH6) | ||
| XM_011532800.1:c.1277_3142-428dup (MSH6) | ||
| XM_024452819.1:c.1574_3439-428dup (MSH6) | ||
| XM_024452820.1:c.1391_3256-428dup (MSH6) | ||
| XM_024452821.1:c.1277_3142-428dup (MSH6) | ||
| XM_024452822.1:c.668_2533-428dup (MSH6) | ||
| NM_000179.3:c.1574_3439-428dup (MSH6) | ||
| NM_001281492.2:c.1184_3049-428dup (MSH6) | ||
| NM_001281493.2:c.668_2533-428dup (MSH6) | ||
| NM_001281494.2:c.668_2533-428dup (MSH6) |