Canonical Allele Identifier: CA585930538
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs780327999
gnomAD v2: 9-2729398-C-A
gnomAD v3: 9-2729398-C-A
gnomAD v4: 9-2729398-C-A
MyVariant Identifiers: chr9:g.2729398C>A (hg19) chr9:g.2729398C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729398C>A , CM000671.2:g.2729398C>A GRCh38
NC_000009.11:g.2729398C>A , CM000671.1:g.2729398C>A GRCh37
NC_000009.10:g.2719398C>A NCBI36
NG_012181.1:g.16873C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.1357-48C>A (KCNV2) MANE Select ENSP00000371514.3:n.1357-48C>A
ENST00000382082.3:c.1357-48C>A (KCNV2) ENSP00000371514.3:n.1357-48C>A
ENST00000490444.2:c.277-8866G>T (PUM3) ENSP00000474467.1:n.277-8866G>T
NM_133497.3:c.1357-48C>A (KCNV2) NP_598004.1:n.1357-48C>A
XR_929202.1:n.2002-48C>A (KCNV2)
XR_929203.1:n.2374C>A (KCNV2)
NM_133497.4:c.1357-48C>A (KCNV2) MANE Select NP_598004.1:n.1357-48C>A
Search 100 bp 5'
Search 100 bp 3'