Canonical Allele Identifier: CA4965640
Gene: KCNV2 HGNC NCBI

Linked Data

dbSNP Id: rs199923365
ExAC: 9:2718566 C / A
gnomAD v2: 9-2718566-C-A
gnomAD v3: 9-2718566-C-A
gnomAD v4: 9-2718566-C-A
MyVariant Identifiers: chr9:g.2718566C>A (hg19) chr9:g.2718566C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2718566C>A , CM000671.2:g.2718566C>A GRCh38
NC_000009.11:g.2718566C>A , CM000671.1:g.2718566C>A GRCh37
NC_000009.10:g.2708566C>A NCBI36
NG_012181.1:g.6041C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.827C>A MANE Select ENSP00000371514.3:p.Ala276Glu
ENST00000382082.3:c.827C>A ENSP00000371514.3:p.Ala276Glu
NM_133497.3:c.827C>A NP_598004.1:p.Ala276Glu
XR_929202.1:n.1328C>A
XR_929203.1:n.1328C>A
NM_133497.4:c.827C>A MANE Select NP_598004.1:p.Ala276Glu
Search 100 bp 5'
Search 100 bp 3'