Canonical Allele Identifier: CA463854083
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1920089
ClinVar RCV Id: RCV002630464
dbSNP Id: rs1330083909
gnomAD v2: 9-2729566-TACA-T
gnomAD v4: 9-2729566-TACA-T
MyVariant Identifiers: chr9:g.2729567_2729569del (hg19) chr9:g.2729567_2729569del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729571_2729573del , CM000671.2:g.2729571_2729573del GRCh38
NC_000009.11:g.2729571_2729573del , CM000671.1:g.2729571_2729573del GRCh37
NC_000009.10:g.2719571_2719573del NCBI36
NG_012181.1:g.17046_17048del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1482_1484del (KCNV2) MANE Select ENSP00000371514.3:p.Asn494del
ENST00000382082.3:c.1482_1484del (KCNV2) ENSP00000371514.3:p.Asn494del
ENST00000490444.2:c.277-9037_277-9035del (PUM3) ENSP00000474467.1:n.277-9037_277-9035del
NM_133497.3:c.1482_1484del (KCNV2) NP_598004.1:p.Asn494del
NM_133497.4:c.1482_1484del (KCNV2) MANE Select NP_598004.1:p.Asn494del
Search 100 bp 5'
Search 100 bp 3'