Linked Data
ClinVar Variation Id:
30480
ClinVar RCV Id:
RCV000023437
dbSNP Id:
rs387906909
ExAC:
2:220075812 GGA / G
gnomAD v2:
2-220075812-GGA-G
gnomAD v3:
2-219211090-GGA-G
gnomAD v4:
2-219211090-GGA-G
MyVariant Identifiers:
chr2:g.220075813_220075814del (hg19)
chr2:g.219211092_219211093del (hg38)
chr2:g.219211091_219211092del (hg38)
PubMed:
PMID:22246506
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219211096_219211097del , CM000664.2:g.219211096_219211097del | GRCh38 |
| NC_000002.11:g.220075818_220075819del , CM000664.1:g.220075818_220075819del | GRCh37 |
| NC_000002.10:g.219784062_219784063del | NCBI36 |
| NG_032110.1:g.12899_12900del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265316.9:c.1985_1986del (ABCB6) MANE Select | ENSP00000265316.3:p.Leu662ProfsTer15 | |
| ENST00000295750.5:c.1847_1848del (ABCB6) | ENSP00000295750.5:p.Leu616ProfsTer15 | |
| ENST00000265316.7:c.1985_1986del (ABCB6) | ENSP00000265316.3:p.Leu662ProfsTer15 | |
| ENST00000295750.4:c.1528_1529del (ABCB6) | ||
| ENST00000446716.5:c.4694-269_4694-268del (ATG9A) | ||
| ENST00000485773.5:n.17_18del (ABCB6) | ||
| ENST00000492543.1:n.535_536del (ABCB6) | ||
| ENST00000497882.5:n.2298_2299del (ABCB6) | ||
| NM_005689.2:c.1985_1986del (ABCB6) | NP_005680.1:p.Leu662ProfsTer15 | |
| NM_001349828.1:c.1847_1848del (ABCB6) | NP_001336757.1:p.Leu616ProfsTer15 | |
| NM_005689.3:c.1985_1986del (ABCB6) | NP_005680.1:p.Leu662ProfsTer15 | |
| NM_005689.4:c.1985_1986del (ABCB6) MANE Select | NP_005680.1:p.Leu662ProfsTer15 | |
| NM_001349828.2:c.1847_1848del (ABCB6) | NP_001336757.1:p.Leu616ProfsTer15 |