Canonical Allele Identifier: CA4965324
Gene: KCNV2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1511630
ClinVar RCV Id: RCV002020519
dbSNP Id: rs750453951
ExAC: 9:2717872 G / A
gnomAD v2: 9-2717872-G-A
gnomAD v3: 9-2717872-G-A
gnomAD v4: 9-2717872-G-A
MyVariant Identifiers: chr9:g.2717872G>A (hg19) chr9:g.2717872G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717872G>A , CM000671.2:g.2717872G>A GRCh38
NC_000009.11:g.2717872G>A , CM000671.1:g.2717872G>A GRCh37
NC_000009.10:g.2707872G>A NCBI36
NG_012181.1:g.5347G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.133G>A MANE Select ENSP00000371514.3:p.Gly45Ser
ENST00000382082.3:c.133G>A ENSP00000371514.3:p.Gly45Ser
NM_133497.3:c.133G>A NP_598004.1:p.Gly45Ser
XR_929202.1:n.634G>A
XR_929203.1:n.634G>A
NM_133497.4:c.133G>A MANE Select NP_598004.1:p.Gly45Ser
Search 100 bp 5'
Search 100 bp 3'