Canonical Allele Identifier: CA1828293561

Gene: KCNV2 PUM3

Linked Data

• dbSNP Id: rs1820039910
• gnomAD v3: 9-2729856-A-G
• gnomAD v4: 9-2729856-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729856A>G , CM000671.2:g.2729856A>G	GRCh38
NC_000009.11:g.2729856A>G , CM000671.1:g.2729856A>G	GRCh37
NC_000009.10:g.2719856A>G	NCBI36
NG_012181.1:g.17331A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.*129A>G (KCNV2) MANE Select	ENSP00000371514.3:n.*129A>G
ENST00000382082.3:c.*129A>G (KCNV2)	ENSP00000371514.3:n.*129A>G
ENST00000490444.2:c.277-9324T>C (PUM3)	ENSP00000474467.1:n.277-9324T>C
NM_133497.3:c.*129A>G (KCNV2)	NP_598004.1:n.*129A>G
NM_133497.4:c.*129A>G (KCNV2) MANE Select	NP_598004.1:n.*129A>G