Canonical Allele Identifier: CA4965945

Gene: KCNV2 PUM3

Linked Data

• ClinVar Variation Id: 2176932
• ClinVar RCV Id: RCV002610321
• dbSNP Id: rs755927542
• ExAC: 9:2729672 T / C
• gnomAD v2: 9-2729672-T-C
• gnomAD v3: 9-2729672-T-C
• gnomAD v4: 9-2729672-T-C
• MyVariant Identifiers: chr9:g.2729672T>C (hg19) ; chr9:g.2729672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729672T>C , CM000671.2:g.2729672T>C	GRCh38
NC_000009.11:g.2729672T>C , CM000671.1:g.2729672T>C	GRCh37
NC_000009.10:g.2719672T>C	NCBI36
NG_012181.1:g.17147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1583T>C (KCNV2) MANE Select	ENSP00000371514.3:p.Ile528Thr
ENST00000382082.3:c.1583T>C (KCNV2)	ENSP00000371514.3:p.Ile528Thr
ENST00000490444.2:c.277-9140A>G (PUM3)	ENSP00000474467.1:n.277-9140A>G
NM_133497.3:c.1583T>C (KCNV2)	NP_598004.1:p.Ile528Thr
NM_133497.4:c.1583T>C (KCNV2) MANE Select	NP_598004.1:p.Ile528Thr