Canonical Allele Identifier: CA130578
Gene: KCNV2 HGNC NCBI
ClinVar RCV:
RCV000033033
RCV002513309
ClinVar Variation:
39812
dbSNP:
397514604
gnomAD v2:
9:2718230 T / C
gnomAD v4:
chr9-2718230-T-C
Joint Max Group AF 0.00002074 (NFE)
Exomes Max Group AF 0.00002201 (NFE)
MyVariant.info:
GRCh38 chr9:g.2718230T>C
GRCh37 chr9:g.2718230T>C
Revel Score:
ENST00000423608 0.931
ENST00000382082 (MANE Select) 0.931
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2718230T>C , CM000671.2:g.2718230T>C GRCh38
NC_000009.11:g.2718230T>C , CM000671.1:g.2718230T>C GRCh37
NC_000009.10:g.2708230T>C NCBI36
NG_012181.1:g.5705T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.491T>C MANE Select ENSP00000371514.3:p.Phe164Ser
ENST00000382082.3:c.491T>C ENSP00000371514.3:p.Phe164Ser
NM_133497.3:c.491T>C NP_598004.1:p.Phe164Ser
XR_929202.1:n.992T>C
XR_929203.1:n.992T>C
NM_133497.4:c.491T>C MANE Select NP_598004.1:p.Phe164Ser
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