Linked Data
dbSNP Id:
rs563176118
ExAC:
3:196044877 G / A
gnomAD v2:
3-196044877-G-A
gnomAD v3:
3-196318006-G-A
gnomAD v4:
3-196318006-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196318006G>A , CM000665.2:g.196318006G>A | GRCh38 |
| NC_000003.11:g.196044877G>A , CM000665.1:g.196044877G>A | GRCh37 |
| NC_000003.10:g.197529274G>A | NCBI36 |
| NG_054930.1:g.5289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325318.10:c.113+34C>T (DYNLT2B) MANE Select | ENSP00000324323.5:n.113+34C>T | |
| ENST00000325318.9:c.113+34C>T (DYNLT2B) | ENSP00000324323.5:n.113+34C>T | |
| ENST00000426563.5:c.117+30C>T (DYNLT2B) | ENSP00000415835.1:n.117+30C>T | |
| ENST00000431391.1:c.113+34C>T | ENSP00000405181.1:n.113+34C>T | |
| ENST00000442633.1:c.*74-1775C>T (TM4SF19-DYNLT2B) | ENSP00000405973.1:n.*74-1775C>T | |
| ENST00000446494.1:c.113+34C>T (DYNLT2B) | ENSP00000410605.1:n.113+34C>T | |
| NM_152773.4:c.113+34C>T (DYNLT2B) | NP_689986.2:n.113+34C>T | |
| NR_037950.1:n.862-1775C>T (TM4SF19-DYNLT2B) | ||
| NM_001351628.1:c.113+34C>T (DYNLT2B) | NP_001338557.1:n.113+34C>T | |
| NM_152773.5:c.113+34C>T (DYNLT2B) MANE Select | NP_689986.2:n.113+34C>T | |
| NM_001351628.2:c.113+34C>T (DYNLT2B) | NP_001338557.1:n.113+34C>T |