Canonical Allele Identifier: CA187990754
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 914856
ClinVar RCV Id: RCV001169224
dbSNP Id: rs147633417
gnomAD v2: 9-2729911-C-T
gnomAD v3: 9-2729911-C-T
gnomAD v4: 9-2729911-C-T
MyVariant Identifiers: chr9:g.2729911C>T (hg19) chr9:g.2729911C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729911C>T , CM000671.2:g.2729911C>T GRCh38
NC_000009.11:g.2729911C>T , CM000671.1:g.2729911C>T GRCh37
NC_000009.10:g.2719911C>T NCBI36
NG_012181.1:g.17386C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*184C>T (KCNV2) MANE Select ENSP00000371514.3:n.*184C>T
ENST00000382082.3:c.*184C>T (KCNV2) ENSP00000371514.3:n.*184C>T
ENST00000490444.2:c.277-9379G>A (PUM3) ENSP00000474467.1:n.277-9379G>A
NM_133497.3:c.*184C>T (KCNV2) NP_598004.1:n.*184C>T
NM_133497.4:c.*184C>T (KCNV2) MANE Select NP_598004.1:n.*184C>T
Search 100 bp 5'
Search 100 bp 3'