Linked Data
dbSNP Id:
rs1406052043
gnomAD v2:
9-2729097-A-C
gnomAD v3:
9-2729097-A-C
gnomAD v4:
9-2729097-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729097A>C , CM000671.2:g.2729097A>C | GRCh38 |
| NC_000009.11:g.2729097A>C , CM000671.1:g.2729097A>C | GRCh37 |
| NC_000009.10:g.2719097A>C | NCBI36 |
| NG_012181.1:g.16572A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.1357-349A>C (KCNV2) MANE Select | ENSP00000371514.3:n.1357-349A>C | |
| ENST00000382082.3:c.1357-349A>C (KCNV2) | ENSP00000371514.3:n.1357-349A>C | |
| ENST00000490444.2:c.277-8565T>G (PUM3) | ENSP00000474467.1:n.277-8565T>G | |
| NM_133497.3:c.1357-349A>C (KCNV2) | NP_598004.1:n.1357-349A>C | |
| XR_929202.1:n.2002-349A>C (KCNV2) | ||
| XR_929203.1:n.2073A>C (KCNV2) | ||
| NM_133497.4:c.1357-349A>C (KCNV2) MANE Select | NP_598004.1:n.1357-349A>C |