Canonical Allele Identifier: CA4965303

Gene: KCNV2

Linked Data

• ClinVar Variation Id: 1160660
• ClinVar RCV Id: RCV001504848
• dbSNP Id: rs199939330
• ExAC: 9:2717799 G / A
• gnomAD v2: 9-2717799-G-A
• gnomAD v3: 9-2717799-G-A
• gnomAD v4: 9-2717799-G-A
• MyVariant Identifiers: chr9:g.2717799G>A (hg19) ; chr9:g.2717799G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2717799G>A , CM000671.2:g.2717799G>A	GRCh38
NC_000009.11:g.2717799G>A , CM000671.1:g.2717799G>A	GRCh37
NC_000009.10:g.2707799G>A	NCBI36
NG_012181.1:g.5274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.60G>A MANE Select	ENSP00000371514.3:p.Glu20=
ENST00000382082.3:c.60G>A	ENSP00000371514.3:p.Glu20=
NM_133497.3:c.60G>A	NP_598004.1:p.Glu20=
XR_929202.1:n.561G>A
XR_929203.1:n.561G>A
NM_133497.4:c.60G>A MANE Select	NP_598004.1:p.Glu20=