Linked Data
dbSNP Id:
rs1226713337
gnomAD v2:
3-196044863-A-G
gnomAD v3:
3-196317992-A-G
gnomAD v4:
3-196317992-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196317992A>G , CM000665.2:g.196317992A>G | GRCh38 |
| NC_000003.11:g.196044863A>G , CM000665.1:g.196044863A>G | GRCh37 |
| NC_000003.10:g.197529260A>G | NCBI36 |
| NG_054930.1:g.5303T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325318.10:c.113+48T>C (DYNLT2B) MANE Select | ENSP00000324323.5:n.113+48T>C | |
| ENST00000325318.9:c.113+48T>C (DYNLT2B) | ENSP00000324323.5:n.113+48T>C | |
| ENST00000426563.5:c.117+44T>C (DYNLT2B) | ENSP00000415835.1:n.117+44T>C | |
| ENST00000431391.1:c.113+48T>C | ENSP00000405181.1:n.113+48T>C | |
| ENST00000442633.1:c.*74-1761T>C (TM4SF19-DYNLT2B) | ENSP00000405973.1:n.*74-1761T>C | |
| ENST00000446494.1:c.113+48T>C (DYNLT2B) | ENSP00000410605.1:n.113+48T>C | |
| NM_152773.4:c.113+48T>C (DYNLT2B) | NP_689986.2:n.113+48T>C | |
| NR_037950.1:n.862-1761T>C (TM4SF19-DYNLT2B) | ||
| NM_001351628.1:c.113+48T>C (DYNLT2B) | NP_001338557.1:n.113+48T>C | |
| XR_001740547.1:n.14T>C | ||
| NM_152773.5:c.113+48T>C (DYNLT2B) MANE Select | NP_689986.2:n.113+48T>C | |
| NM_001351628.2:c.113+48T>C (DYNLT2B) | NP_001338557.1:n.113+48T>C |