Canonical Allele Identifier: CA4965635
Gene: KCNV2 HGNC NCBI

Linked Data

dbSNP Id: rs767476582
ExAC: 9:2718558 C / T
gnomAD v2: 9-2718558-C-T
gnomAD v3: 9-2718558-C-T
gnomAD v4: 9-2718558-C-T
MyVariant Identifiers: chr9:g.2718558C>T (hg19) chr9:g.2718558C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2718558C>T , CM000671.2:g.2718558C>T GRCh38
NC_000009.11:g.2718558C>T , CM000671.1:g.2718558C>T GRCh37
NC_000009.10:g.2708558C>T NCBI36
NG_012181.1:g.6033C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.819C>T MANE Select ENSP00000371514.3:p.Ser273=
ENST00000382082.3:c.819C>T ENSP00000371514.3:p.Ser273=
NM_133497.3:c.819C>T NP_598004.1:p.Ser273=
XR_929202.1:n.1320C>T
XR_929203.1:n.1320C>T
NM_133497.4:c.819C>T MANE Select NP_598004.1:p.Ser273=
Search 100 bp 5'
Search 100 bp 3'