Canonical Allele Identifier: CA4965327
Gene: KCNV2 HGNC NCBI

Linked Data

ClinVar Variation Id: 967262
ClinVar RCV Id: RCV001242131
dbSNP Id: rs140834504
ExAC: 9:2717875 T / C
gnomAD v2: 9-2717875-T-C
gnomAD v3: 9-2717875-T-C
gnomAD v4: 9-2717875-T-C
MyVariant Identifiers: chr9:g.2717875T>C (hg19) chr9:g.2717875T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717875T>C , CM000671.2:g.2717875T>C GRCh38
NC_000009.11:g.2717875T>C , CM000671.1:g.2717875T>C GRCh37
NC_000009.10:g.2707875T>C NCBI36
NG_012181.1:g.5350T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.136T>C MANE Select ENSP00000371514.3:p.Trp46Arg
ENST00000382082.3:c.136T>C ENSP00000371514.3:p.Trp46Arg
NM_133497.3:c.136T>C NP_598004.1:p.Trp46Arg
XR_929202.1:n.637T>C
XR_929203.1:n.637T>C
NM_133497.4:c.136T>C MANE Select NP_598004.1:p.Trp46Arg
Search 100 bp 5'
Search 100 bp 3'