Canonical Allele Identifier: CA2689246202

Gene: KCNV2 PUM3

Linked Data

• gnomAD v4: 9-2729894-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729894A>C , CM000671.2:g.2729894A>C	GRCh38
NC_000009.11:g.2729894A>C , CM000671.1:g.2729894A>C	GRCh37
NC_000009.10:g.2719894A>C	NCBI36
NG_012181.1:g.17369A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.*167A>C (KCNV2) MANE Select	ENSP00000371514.3:n.*167A>C
ENST00000382082.3:c.*167A>C (KCNV2)	ENSP00000371514.3:n.*167A>C
ENST00000490444.2:c.277-9362T>G (PUM3)	ENSP00000474467.1:n.277-9362T>G
NM_133497.3:c.*167A>C (KCNV2)	NP_598004.1:n.*167A>C
NM_133497.4:c.*167A>C (KCNV2) MANE Select	NP_598004.1:n.*167A>C