Canonical Allele Identifier: CA4965921
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1500793
ClinVar RCV Id: RCV002015921
dbSNP Id: rs369942348
ExAC: 9:2729525 C / G
gnomAD v2: 9-2729525-C-G
gnomAD v4: 9-2729525-C-G
MyVariant Identifiers: chr9:g.2729525C>G (hg19) chr9:g.2729525C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729525C>G , CM000671.2:g.2729525C>G GRCh38
NC_000009.11:g.2729525C>G , CM000671.1:g.2729525C>G GRCh37
NC_000009.10:g.2719525C>G NCBI36
NG_012181.1:g.17000C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1436C>G (KCNV2) MANE Select ENSP00000371514.3:p.Ala479Gly
ENST00000382082.3:c.1436C>G (KCNV2) ENSP00000371514.3:p.Ala479Gly
ENST00000490444.2:c.277-8993G>C (PUM3) ENSP00000474467.1:n.277-8993G>C
NM_133497.3:c.1436C>G (KCNV2) NP_598004.1:p.Ala479Gly
NM_133497.4:c.1436C>G (KCNV2) MANE Select NP_598004.1:p.Ala479Gly
Search 100 bp 5'
Search 100 bp 3'