Canonical Allele Identifier: CA463854037
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

gnomAD v4: 9-2729496-G-A
MyVariant Identifiers: chr9:g.2729496G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729496G>A , CM000671.2:g.2729496G>A GRCh38
NC_000009.11:g.2729496G>A , CM000671.1:g.2729496G>A GRCh37
NC_000009.10:g.2719496G>A NCBI36
NG_012181.1:g.16971G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1407G>A (KCNV2) MANE Select ENSP00000371514.3:p.Leu469=
ENST00000382082.3:c.1407G>A (KCNV2) ENSP00000371514.3:p.Leu469=
ENST00000490444.2:c.277-8964C>T (PUM3) ENSP00000474467.1:n.277-8964C>T
NM_133497.3:c.1407G>A (KCNV2) NP_598004.1:p.Leu469=
XR_929202.1:n.2052G>A (KCNV2)
NM_133497.4:c.1407G>A (KCNV2) MANE Select NP_598004.1:p.Leu469=
Search 100 bp 5'
Search 100 bp 3'