Canonical Allele Identifier: CA372803353
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs1451835643
gnomAD v2: 9-2729478-G-A
gnomAD v4: 9-2729478-G-A
MyVariant Identifiers: chr9:g.2729478G>A (hg19) chr9:g.2729478G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729478G>A , CM000671.2:g.2729478G>A GRCh38
NC_000009.11:g.2729478G>A , CM000671.1:g.2729478G>A GRCh37
NC_000009.10:g.2719478G>A NCBI36
NG_012181.1:g.16953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1389G>A (KCNV2) MANE Select ENSP00000371514.3:p.Met463Ile
ENST00000382082.3:c.1389G>A (KCNV2) ENSP00000371514.3:p.Met463Ile
ENST00000490444.2:c.277-8946C>T (PUM3) ENSP00000474467.1:n.277-8946C>T
NM_133497.3:c.1389G>A (KCNV2) NP_598004.1:p.Met463Ile
XR_929202.1:n.2034G>A (KCNV2)
NM_133497.4:c.1389G>A (KCNV2) MANE Select NP_598004.1:p.Met463Ile
Search 100 bp 5'
Search 100 bp 3'