Canonical Allele Identifier: CA4965284

Gene: KCNV2

Linked Data

• ClinVar Variation Id: 1160532
• ClinVar RCV Id: RCV001504710
• dbSNP Id: rs377071035
• ExAC: 9:2717754 T / C
• gnomAD v2: 9-2717754-T-C
• gnomAD v3: 9-2717754-T-C
• gnomAD v4: 9-2717754-T-C
• MyVariant Identifiers: chr9:g.2717754T>C (hg19) ; chr9:g.2717754T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2717754T>C , CM000671.2:g.2717754T>C	GRCh38
NC_000009.11:g.2717754T>C , CM000671.1:g.2717754T>C	GRCh37
NC_000009.10:g.2707754T>C	NCBI36
NG_012181.1:g.5229T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.15T>C MANE Select	ENSP00000371514.3:p.Ser5=
ENST00000382082.3:c.15T>C	ENSP00000371514.3:p.Ser5=
NM_133497.3:c.15T>C	NP_598004.1:p.Ser5=
XR_929202.1:n.516T>C
XR_929203.1:n.516T>C
NM_133497.4:c.15T>C MANE Select	NP_598004.1:p.Ser5=