Canonical Allele Identifier: CA115923
Gene: KCNV2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.2718506C>G
GRCh37 chr9:g.2718506C>G
Revel Score:
ENST00000382082 (MANE Select) 0.967
gnomAD v4:
chr9-2718506-C-G
Joint Max Group AF 0.00000689 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
ClinVar RCV:
RCV000003150
ClinVar Variation:
3014
dbSNP:
104894116
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2718506C>G , CM000671.2:g.2718506C>G GRCh38
NC_000009.11:g.2718506C>G , CM000671.1:g.2718506C>G GRCh37
NC_000009.10:g.2708506C>G NCBI36
NG_012181.1:g.5981C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.767C>G MANE Select ENSP00000371514.3:p.Ser256Trp
ENST00000382082.3:c.767C>G ENSP00000371514.3:p.Ser256Trp
NM_133497.3:c.767C>G NP_598004.1:p.Ser256Trp
XR_929202.1:n.1268C>G
XR_929203.1:n.1268C>G
NM_133497.4:c.767C>G MANE Select NP_598004.1:p.Ser256Trp
Search 100 bp 5'
Search 100 bp 3'