Canonical Allele Identifier: CA1828293562

Gene: KCNV2 PUM3

Linked Data

• dbSNP Id: rs1820039970
• gnomAD v4: 9-2729856-A-AGTACT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729858_2729862dup , CM000671.2:g.2729858_2729862dup	GRCh38
NC_000009.11:g.2729858_2729862dup , CM000671.1:g.2729858_2729862dup	GRCh37
NC_000009.10:g.2719858_2719862dup	NCBI36
NG_012181.1:g.17333_17337dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.*131_*135dup (KCNV2) MANE Select	ENSP00000371514.3:n.*131_*135dup
ENST00000382082.3:c.*131_*135dup (KCNV2)	ENSP00000371514.3:n.*131_*135dup
ENST00000490444.2:c.277-9329_277-9325dup (PUM3)	ENSP00000474467.1:n.277-9329_277-9325dup
NM_133497.3:c.*131_*135dup (KCNV2)	NP_598004.1:n.*131_*135dup
NM_133497.4:c.*131_*135dup (KCNV2) MANE Select	NP_598004.1:n.*131_*135dup