Linked Data
dbSNP Id:
rs764622224
ExAC:
9:2729779 GCT / G
gnomAD v2:
9-2729779-GCT-G
gnomAD v4:
9-2729779-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729782_2729783del , CM000671.2:g.2729782_2729783del | GRCh38 |
| NC_000009.11:g.2729782_2729783del , CM000671.1:g.2729782_2729783del | GRCh37 |
| NC_000009.10:g.2719782_2719783del | NCBI36 |
| NG_012181.1:g.17257_17258del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.*55_*56del (KCNV2) MANE Select | ENSP00000371514.3:n.*55_*56del | |
| ENST00000382082.3:c.*55_*56del (KCNV2) | ENSP00000371514.3:n.*55_*56del | |
| ENST00000490444.2:c.277-9249_277-9248del (PUM3) | ENSP00000474467.1:n.277-9249_277-9248del | |
| NM_133497.3:c.*55_*56del (KCNV2) | NP_598004.1:n.*55_*56del | |
| NM_133497.4:c.*55_*56del (KCNV2) MANE Select | NP_598004.1:n.*55_*56del |