Canonical Allele Identifier: CA4965641
Gene: KCNV2 HGNC NCBI

Linked Data

ClinVar Variation Id: 718563
ClinVar RCV Id: RCV000891536 RCV001701471
dbSNP Id: rs144330480
ExAC: 9:2718567 G / A
gnomAD v2: 9-2718567-G-A
gnomAD v3: 9-2718567-G-A
gnomAD v4: 9-2718567-G-A
MyVariant Identifiers: chr9:g.2718567G>A (hg19) chr9:g.2718567G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2718567G>A , CM000671.2:g.2718567G>A GRCh38
NC_000009.11:g.2718567G>A , CM000671.1:g.2718567G>A GRCh37
NC_000009.10:g.2708567G>A NCBI36
NG_012181.1:g.6042G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.828G>A MANE Select ENSP00000371514.3:p.Ala276=
ENST00000382082.3:c.828G>A ENSP00000371514.3:p.Ala276=
NM_133497.3:c.828G>A NP_598004.1:p.Ala276=
XR_929202.1:n.1329G>A
XR_929203.1:n.1329G>A
NM_133497.4:c.828G>A MANE Select NP_598004.1:p.Ala276=
Search 100 bp 5'
Search 100 bp 3'