Canonical Allele Identifier: CA463854058
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2118775
ClinVar RCV Id: RCV003030650
gnomAD v4: 9-2729529-T-C
COSMIC: COSM5814115
MyVariant Identifiers: chr9:g.2729529T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729529T>C , CM000671.2:g.2729529T>C GRCh38
NC_000009.11:g.2729529T>C , CM000671.1:g.2729529T>C GRCh37
NC_000009.10:g.2719529T>C NCBI36
NG_012181.1:g.17004T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1440T>C (KCNV2) MANE Select ENSP00000371514.3:p.Phe480=
ENST00000382082.3:c.1440T>C (KCNV2) ENSP00000371514.3:p.Phe480=
ENST00000490444.2:c.277-8997A>G (PUM3) ENSP00000474467.1:n.277-8997A>G
NM_133497.3:c.1440T>C (KCNV2) NP_598004.1:p.Phe480=
NM_133497.4:c.1440T>C (KCNV2) MANE Select NP_598004.1:p.Phe480=
Search 100 bp 5'
Search 100 bp 3'