Linked Data
ClinVar Variation Id:
2857820
ClinVar RCV Id:
RCV003704055
MyVariant Identifiers:
chr2:g.173330268T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.172465540T>C , CM000664.2:g.172465540T>C | GRCh38 |
| NC_000002.11:g.173330268T>C , CM000664.1:g.173330268T>C | GRCh37 |
| NC_000002.10:g.173038514T>C | NCBI36 |
| NG_008853.1:g.42955T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264107.12:c.184T>C (ITGA6) | ENSP00000264107.8:p.Leu62= | |
| ENST00000442250.6:c.184T>C (ITGA6) MANE Plus Clinical | ENSP00000406694.1:p.Leu62= | |
| ENST00000684293.1:c.184T>C (ITGA6) MANE Select | ENSP00000508249.1:p.Leu62= | |
| ENST00000409080.6:c.184T>C (ITGA6) | ENSP00000386896.1:p.Leu62= | |
| ENST00000264107.11:c.184T>C (ITGA6) | ENSP00000264107.7:p.Leu62= | |
| ENST00000409080.5:c.184T>C (ITGA6) | ENSP00000386896.1:p.Leu62= | |
| ENST00000409532.5:c.-159T>C (ITGA6) | ENSP00000386614.1:n.-159T>C | |
| ENST00000412899.5:c.-159T>C (ITGA6) | ENSP00000413470.1:n.-159T>C | |
| ENST00000442250.5:c.184T>C (ITGA6) | ENSP00000406694.1:p.Leu62= | |
| ENST00000458358.5:c.184T>C (ITGA6) | ENSP00000394169.1:p.Leu62= | |
| NM_000210.2:c.184T>C (ITGA6) | NP_000201.2:p.Leu62= | |
| NM_000210.3:c.184T>C (ITGA6) | NP_000201.2:p.Leu62= | |
| NM_001079818.1:c.184T>C (ITGA6) | NP_001073286.1:p.Leu62= | |
| NM_001079818.2:c.184T>C (ITGA6) | NP_001073286.1:p.Leu62= | |
| NM_001316306.1:c.-159T>C (ITGA6) | NP_001303235.1:n.-159T>C | |
| XM_006712510.1:c.184T>C (ITGA6) | XP_006712573.1:p.Leu62= | |
| XM_006712511.1:c.184T>C (ITGA6) | XP_006712574.1:p.Leu62= | |
| NM_001365529.1:c.184T>C (ITGA6) | NP_001352458.1:p.Leu62= | |
| NM_001365530.1:c.184T>C (ITGA6) | NP_001352459.1:p.Leu62= | |
| NR_157573.1:n.199+284A>G (ITGA6-AS1) | ||
| XM_017004005.1:c.-159T>C (ITGA6) | XP_016859494.1:n.-159T>C | |
| XM_017004006.1:c.-159T>C (ITGA6) | XP_016859495.1:n.-159T>C | |
| XM_017004007.1:c.-159T>C (ITGA6) | XP_016859496.1:n.-159T>C | |
| XM_017004008.1:c.-159T>C (ITGA6) | XP_016859497.1:n.-159T>C | |
| XR_001739781.1:n.410-966A>G (ITGA6-AS1) | ||
| XR_001739784.1:n.607+284A>G (ITGA6-AS1) | ||
| XR_001739786.1:n.718+284A>G (ITGA6-AS1) | ||
| XR_001739788.1:n.505-966A>G (ITGA6-AS1) | ||
| NM_001079818.3:c.184T>C (ITGA6) | NP_001073286.1:p.Leu62= | |
| NM_000210.4:c.184T>C (ITGA6) MANE Select | NP_000201.2:p.Leu62= | |
| NM_001316306.2:c.-159T>C (ITGA6) | NP_001303235.1:n.-159T>C | |
| NM_001365529.2:c.184T>C (ITGA6) | NP_001352458.1:p.Leu62= | |
| NM_001365530.2:c.184T>C (ITGA6) | NP_001352459.1:p.Leu62= | |
| NM_001394928.1:c.184T>C (ITGA6) MANE Plus Clinical | NP_001381857.1:p.Leu62= |