Canonical Allele Identifier: CA4965376
Gene: KCNV2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2116860
ClinVar RCV Id: RCV003027450
dbSNP Id: rs755584472
ExAC: 9:2717969 A / C
gnomAD v2: 9-2717969-A-C
gnomAD v3: 9-2717969-A-C
gnomAD v4: 9-2717969-A-C
MyVariant Identifiers: chr9:g.2717969A>C (hg19) chr9:g.2717969A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717969A>C , CM000671.2:g.2717969A>C GRCh38
NC_000009.11:g.2717969A>C , CM000671.1:g.2717969A>C GRCh37
NC_000009.10:g.2707969A>C NCBI36
NG_012181.1:g.5444A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.230A>C MANE Select ENSP00000371514.3:p.Gln77Pro
ENST00000382082.3:c.230A>C ENSP00000371514.3:p.Gln77Pro
NM_133497.3:c.230A>C NP_598004.1:p.Gln77Pro
XR_929202.1:n.731A>C
XR_929203.1:n.731A>C
NM_133497.4:c.230A>C MANE Select NP_598004.1:p.Gln77Pro
Search 100 bp 5'
Search 100 bp 3'