Canonical Allele Identifier: CA372803295
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs1228455259
gnomAD v2: 9-2729450-G-A
gnomAD v4: 9-2729450-G-A
MyVariant Identifiers: chr9:g.2729450G>A (hg19) chr9:g.2729450G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729450G>A , CM000671.2:g.2729450G>A GRCh38
NC_000009.11:g.2729450G>A , CM000671.1:g.2729450G>A GRCh37
NC_000009.10:g.2719450G>A NCBI36
NG_012181.1:g.16925G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1361G>A (KCNV2) MANE Select ENSP00000371514.3:p.Ser454Asn
ENST00000382082.3:c.1361G>A (KCNV2) ENSP00000371514.3:p.Ser454Asn
ENST00000490444.2:c.277-8918C>T (PUM3) ENSP00000474467.1:n.277-8918C>T
NM_133497.3:c.1361G>A (KCNV2) NP_598004.1:p.Ser454Asn
XR_929202.1:n.2006G>A (KCNV2)
NM_133497.4:c.1361G>A (KCNV2) MANE Select NP_598004.1:p.Ser454Asn
Search 100 bp 5'
Search 100 bp 3'