Canonical Allele Identifier: CA372795764
Gene: KCNV2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2365760
ClinVar RCV Id: RCV003003450
dbSNP Id: rs1819761800
gnomAD v4: 9-2717867-T-A
MyVariant Identifiers: chr9:g.2717867T>A (hg19) chr9:g.2717867T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717867T>A , CM000671.2:g.2717867T>A GRCh38
NC_000009.11:g.2717867T>A , CM000671.1:g.2717867T>A GRCh37
NC_000009.10:g.2707867T>A NCBI36
NG_012181.1:g.5342T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.128T>A MANE Select ENSP00000371514.3:p.Ile43Asn
ENST00000382082.3:c.128T>A ENSP00000371514.3:p.Ile43Asn
NM_133497.3:c.128T>A NP_598004.1:p.Ile43Asn
XR_929202.1:n.629T>A
XR_929203.1:n.629T>A
NM_133497.4:c.128T>A MANE Select NP_598004.1:p.Ile43Asn
Search 100 bp 5'
Search 100 bp 3'