Canonical Allele Identifier: CA372803511
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

gnomAD v4: 9-2729552-C-G
COSMIC: COSM312230
MyVariant Identifiers: chr9:g.2729552C>G (hg19) chr9:g.2729552C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729552C>G , CM000671.2:g.2729552C>G GRCh38
NC_000009.11:g.2729552C>G , CM000671.1:g.2729552C>G GRCh37
NC_000009.10:g.2719552C>G NCBI36
NG_012181.1:g.17027C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1463C>G (KCNV2) MANE Select ENSP00000371514.3:p.Pro488Arg
ENST00000382082.3:c.1463C>G (KCNV2) ENSP00000371514.3:p.Pro488Arg
ENST00000490444.2:c.277-9020G>C (PUM3) ENSP00000474467.1:n.277-9020G>C
NM_133497.3:c.1463C>G (KCNV2) NP_598004.1:p.Pro488Arg
NM_133497.4:c.1463C>G (KCNV2) MANE Select NP_598004.1:p.Pro488Arg
Search 100 bp 5'
Search 100 bp 3'