Canonical Allele Identifier: CA4965904
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 722546
ClinVar RCV Id: RCV000896196
dbSNP Id: rs367634793
ExAC: 9:2729469 C / T
gnomAD v2: 9-2729469-C-T
gnomAD v3: 9-2729469-C-T
gnomAD v4: 9-2729469-C-T
MyVariant Identifiers: chr9:g.2729469C>T (hg19) chr9:g.2729469C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729469C>T , CM000671.2:g.2729469C>T GRCh38
NC_000009.11:g.2729469C>T , CM000671.1:g.2729469C>T GRCh37
NC_000009.10:g.2719469C>T NCBI36
NG_012181.1:g.16944C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1380C>T (KCNV2) MANE Select ENSP00000371514.3:p.Tyr460=
ENST00000382082.3:c.1380C>T (KCNV2) ENSP00000371514.3:p.Tyr460=
ENST00000490444.2:c.277-8937G>A (PUM3) ENSP00000474467.1:n.277-8937G>A
NM_133497.3:c.1380C>T (KCNV2) NP_598004.1:p.Tyr460=
XR_929202.1:n.2025C>T (KCNV2)
NM_133497.4:c.1380C>T (KCNV2) MANE Select NP_598004.1:p.Tyr460=
Search 100 bp 5'
Search 100 bp 3'