Canonical Allele Identifier: CA2689245982

Gene: KCNV2 PUM3

Linked Data

• gnomAD v4: 9-2729770-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729770G>A , CM000671.2:g.2729770G>A	GRCh38
NC_000009.11:g.2729770G>A , CM000671.1:g.2729770G>A	GRCh37
NC_000009.10:g.2719770G>A	NCBI36
NG_012181.1:g.17245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.*43G>A (KCNV2) MANE Select	ENSP00000371514.3:n.*43G>A
ENST00000382082.3:c.*43G>A (KCNV2)	ENSP00000371514.3:n.*43G>A
ENST00000490444.2:c.277-9238C>T (PUM3)	ENSP00000474467.1:n.277-9238C>T
NM_133497.3:c.*43G>A (KCNV2)	NP_598004.1:n.*43G>A
NM_133497.4:c.*43G>A (KCNV2) MANE Select	NP_598004.1:n.*43G>A