Canonical Allele Identifier: CA463854019
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.2729463G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729463G>A , CM000671.2:g.2729463G>A GRCh38
NC_000009.11:g.2729463G>A , CM000671.1:g.2729463G>A GRCh37
NC_000009.10:g.2719463G>A NCBI36
NG_012181.1:g.16938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1374G>A (KCNV2) MANE Select ENSP00000371514.3:p.Val458=
ENST00000382082.3:c.1374G>A (KCNV2) ENSP00000371514.3:p.Val458=
ENST00000490444.2:c.277-8931C>T (PUM3) ENSP00000474467.1:n.277-8931C>T
NM_133497.3:c.1374G>A (KCNV2) NP_598004.1:p.Val458=
XR_929202.1:n.2019G>A (KCNV2)
NM_133497.4:c.1374G>A (KCNV2) MANE Select NP_598004.1:p.Val458=
Search 100 bp 5'
Search 100 bp 3'