Canonical Allele Identifier: CA4965956
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 366479
ClinVar RCV Id: RCV000272866 RCV000975201
dbSNP Id: rs112673841
ExAC: 9:2729705 T / C
gnomAD v2: 9-2729705-T-C
gnomAD v3: 9-2729705-T-C
gnomAD v4: 9-2729705-T-C
MyVariant Identifiers: chr9:g.2729705T>C (hg19) chr9:g.2729705T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729705T>C , CM000671.2:g.2729705T>C GRCh38
NC_000009.11:g.2729705T>C , CM000671.1:g.2729705T>C GRCh37
NC_000009.10:g.2719705T>C NCBI36
NG_012181.1:g.17180T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1616T>C (KCNV2) MANE Select ENSP00000371514.3:p.Leu539Pro
ENST00000382082.3:c.1616T>C (KCNV2) ENSP00000371514.3:p.Leu539Pro
ENST00000490444.2:c.277-9173A>G (PUM3) ENSP00000474467.1:n.277-9173A>G
NM_133497.3:c.1616T>C (KCNV2) NP_598004.1:p.Leu539Pro
NM_133497.4:c.1616T>C (KCNV2) MANE Select NP_598004.1:p.Leu539Pro
Search 100 bp 5'
Search 100 bp 3'