Canonical Allele Identifier: CA1120584099

Gene: KCNV2 PUM3

Linked Data

• dbSNP Id: rs1820040505
• gnomAD v3: 9-2729895-G-A
• gnomAD v4: 9-2729895-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729895G>A , CM000671.2:g.2729895G>A	GRCh38
NC_000009.11:g.2729895G>A , CM000671.1:g.2729895G>A	GRCh37
NC_000009.10:g.2719895G>A	NCBI36
NG_012181.1:g.17370G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.*168G>A (KCNV2) MANE Select	ENSP00000371514.3:n.*168G>A
ENST00000382082.3:c.*168G>A (KCNV2)	ENSP00000371514.3:n.*168G>A
ENST00000490444.2:c.277-9363C>T (PUM3)	ENSP00000474467.1:n.277-9363C>T
NM_133497.3:c.*168G>A (KCNV2)	NP_598004.1:n.*168G>A
NM_133497.4:c.*168G>A (KCNV2) MANE Select	NP_598004.1:n.*168G>A