Canonical Allele Identifier: CA4965955
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs561576420
ExAC: 9:2729701 C / A
gnomAD v2: 9-2729701-C-A
gnomAD v3: 9-2729701-C-A
gnomAD v4: 9-2729701-C-A
MyVariant Identifiers: chr9:g.2729701C>A (hg19) chr9:g.2729701C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729701C>A , CM000671.2:g.2729701C>A GRCh38
NC_000009.11:g.2729701C>A , CM000671.1:g.2729701C>A GRCh37
NC_000009.10:g.2719701C>A NCBI36
NG_012181.1:g.17176C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1612C>A (KCNV2) MANE Select ENSP00000371514.3:p.Gln538Lys
ENST00000382082.3:c.1612C>A (KCNV2) ENSP00000371514.3:p.Gln538Lys
ENST00000490444.2:c.277-9169G>T (PUM3) ENSP00000474467.1:n.277-9169G>T
NM_133497.3:c.1612C>A (KCNV2) NP_598004.1:p.Gln538Lys
NM_133497.4:c.1612C>A (KCNV2) MANE Select NP_598004.1:p.Gln538Lys
Search 100 bp 5'
Search 100 bp 3'