Linked Data
dbSNP Id:
rs11959928
gnomAD v2:
5-39397132-T-A
gnomAD v3:
5-39397030-T-A
gnomAD v4:
5-39397030-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.39397030T>A , CM000667.2:g.39397030T>A | GRCh38 |
| NC_000005.9:g.39397132T>A , CM000667.1:g.39397132T>A | GRCh37 |
| NC_000005.8:g.39432889T>A | NCBI36 |
| NG_030312.1:g.33204A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320816.11:c.-101-2609A>T (DAB2) MANE Select | ENSP00000313391.6:n.-101-2609A>T | |
| ENST00000320816.10:c.-101-2609A>T (DAB2) | ENSP00000313391.6:n.-101-2609A>T | |
| ENST00000339788.10:c.-101-2609A>T (DAB2) | ENSP00000345508.6:n.-101-2609A>T | |
| ENST00000483232.6:n.66-8178A>T (C9) | ||
| ENST00000503513.5:c.-101-2609A>T (DAB2) | ENSP00000425088.1:n.-101-2609A>T | |
| ENST00000507539.5:c.-101-2609A>T (DAB2) | ENSP00000421526.1:n.-101-2609A>T | |
| ENST00000511792.5:c.-101-2609A>T (DAB2) | ENSP00000427541.1:n.-101-2609A>T | |
| ENST00000513052.1:n.458-2609A>T (DAB2) | ||
| ENST00000515269.5:n.233-2609A>T (DAB2) | ||
| ENST00000515700.5:c.-101-2609A>T (DAB2) | ENSP00000421086.1:n.-101-2609A>T | |
| ENST00000545653.5:c.-101-2609A>T (DAB2) | ENSP00000439919.1:n.-101-2609A>T | |
| NM_001244871.1:c.-101-2609A>T (DAB2) | NP_001231800.1:n.-101-2609A>T | |
| NM_001343.3:c.-101-2609A>T (DAB2) | NP_001334.2:n.-101-2609A>T | |
| NM_001343.4:c.-101-2609A>T (DAB2) MANE Select | NP_001334.2:n.-101-2609A>T | |
| NM_001244871.2:c.-101-2609A>T (DAB2) | NP_001231800.1:n.-101-2609A>T |