Canonical Allele Identifier: CA4965270
Gene: KCNV2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.2717698C>G
GRCh37 chr9:g.2717698C>G
gnomAD v2:
9:2717698 C / G
gnomAD v3:
9:2717698 C / G
gnomAD v4:
chr9-2717698-C-G
Joint Max Group AF 0.81171074 (EAS)
Genomes Max Group AF 0.78624105 (EAS)
Exomes Max Group AF 0.81282064 (EAS)
ClinVar RCV:
RCV000357639
RCV001643110
ClinVar Variation:
366403
dbSNP:
7029012
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717698C>G , CM000671.2:g.2717698C>G GRCh38
NC_000009.11:g.2717698C>G , CM000671.1:g.2717698C>G GRCh37
NC_000009.10:g.2707698C>G NCBI36
NG_012181.1:g.5173C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.-42C>G MANE Select ENSP00000371514.3:n.-42C>G
ENST00000382082.3:c.-42C>G ENSP00000371514.3:n.-42C>G
NM_133497.3:c.-42C>G NP_598004.1:n.-42C>G
XR_929202.1:n.460C>G
XR_929203.1:n.460C>G
NM_133497.4:c.-42C>G MANE Select NP_598004.1:n.-42C>G
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