Canonical Allele Identifier: CA2689245979

Gene: KCNV2 PUM3

Linked Data

• gnomAD v4: 9-2729767-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729767C>A , CM000671.2:g.2729767C>A	GRCh38
NC_000009.11:g.2729767C>A , CM000671.1:g.2729767C>A	GRCh37
NC_000009.10:g.2719767C>A	NCBI36
NG_012181.1:g.17242C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.*40C>A (KCNV2) MANE Select	ENSP00000371514.3:n.*40C>A
ENST00000382082.3:c.*40C>A (KCNV2)	ENSP00000371514.3:n.*40C>A
ENST00000490444.2:c.277-9235G>T (PUM3)	ENSP00000474467.1:n.277-9235G>T
NM_133497.3:c.*40C>A (KCNV2)	NP_598004.1:n.*40C>A
NM_133497.4:c.*40C>A (KCNV2) MANE Select	NP_598004.1:n.*40C>A