Canonical Allele Identifier: CA4965948
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 262361
ClinVar RCV Id: RCV000245885 RCV000365099 RCV001514496
dbSNP Id: rs12352254
ExAC: 9:2729686 C / G
gnomAD v2: 9-2729686-C-G
gnomAD v3: 9-2729686-C-G
gnomAD v4: 9-2729686-C-G
MyVariant Identifiers: chr9:g.2729686C>G (hg19) chr9:g.2729686C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729686C>G , CM000671.2:g.2729686C>G GRCh38
NC_000009.11:g.2729686C>G , CM000671.1:g.2729686C>G GRCh37
NC_000009.10:g.2719686C>G NCBI36
NG_012181.1:g.17161C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1597C>G (KCNV2) MANE Select ENSP00000371514.3:p.Leu533Val
ENST00000382082.3:c.1597C>G (KCNV2) ENSP00000371514.3:p.Leu533Val
ENST00000490444.2:c.277-9154G>C (PUM3) ENSP00000474467.1:n.277-9154G>C
NM_133497.3:c.1597C>G (KCNV2) NP_598004.1:p.Leu533Val
NM_133497.4:c.1597C>G (KCNV2) MANE Select NP_598004.1:p.Leu533Val
Search 100 bp 5'
Search 100 bp 3'