Canonical Allele Identifier: CA4965960
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 262358
ClinVar RCV Id: RCV000254394 RCV000325944
dbSNP Id: rs41306094
ExAC: 9:2729733 T / C
gnomAD v2: 9-2729733-T-C
gnomAD v3: 9-2729733-T-C
gnomAD v4: 9-2729733-T-C
MyVariant Identifiers: chr9:g.2729733T>C (hg19) chr9:g.2729733T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729733T>C , CM000671.2:g.2729733T>C GRCh38
NC_000009.11:g.2729733T>C , CM000671.1:g.2729733T>C GRCh37
NC_000009.10:g.2719733T>C NCBI36
NG_012181.1:g.17208T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*6T>C (KCNV2) MANE Select ENSP00000371514.3:n.*6T>C
ENST00000382082.3:c.*6T>C (KCNV2) ENSP00000371514.3:n.*6T>C
ENST00000490444.2:c.277-9201A>G (PUM3) ENSP00000474467.1:n.277-9201A>G
NM_133497.3:c.*6T>C (KCNV2) NP_598004.1:n.*6T>C
NM_133497.4:c.*6T>C (KCNV2) MANE Select NP_598004.1:n.*6T>C
Search 100 bp 5'
Search 100 bp 3'