Canonical Allele Identifier: CA4965377
Gene: KCNV2 HGNC NCBI

Linked Data

dbSNP Id: rs779672220
ExAC: 9:2717972 C / A
gnomAD v2: 9-2717972-C-A
gnomAD v4: 9-2717972-C-A
MyVariant Identifiers: chr9:g.2717972C>A (hg19) chr9:g.2717972C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717972C>A , CM000671.2:g.2717972C>A GRCh38
NC_000009.11:g.2717972C>A , CM000671.1:g.2717972C>A GRCh37
NC_000009.10:g.2707972C>A NCBI36
NG_012181.1:g.5447C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.233C>A MANE Select ENSP00000371514.3:p.Ala78Glu
ENST00000382082.3:c.233C>A ENSP00000371514.3:p.Ala78Glu
NM_133497.3:c.233C>A NP_598004.1:p.Ala78Glu
XR_929202.1:n.734C>A
XR_929203.1:n.734C>A
NM_133497.4:c.233C>A MANE Select NP_598004.1:p.Ala78Glu
Search 100 bp 5'
Search 100 bp 3'