Canonical Allele Identifier: CA1120584067

Gene: KCNV2 PUM3

Linked Data

• dbSNP Id: rs1053149234
• gnomAD v3: 9-2729854-A-G
• gnomAD v4: 9-2729854-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729854A>G , CM000671.2:g.2729854A>G	GRCh38
NC_000009.11:g.2729854A>G , CM000671.1:g.2729854A>G	GRCh37
NC_000009.10:g.2719854A>G	NCBI36
NG_012181.1:g.17329A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.*127A>G (KCNV2) MANE Select	ENSP00000371514.3:n.*127A>G
ENST00000382082.3:c.*127A>G (KCNV2)	ENSP00000371514.3:n.*127A>G
ENST00000490444.2:c.277-9322T>C (PUM3)	ENSP00000474467.1:n.277-9322T>C
NM_133497.3:c.*127A>G (KCNV2)	NP_598004.1:n.*127A>G
NM_133497.4:c.*127A>G (KCNV2) MANE Select	NP_598004.1:n.*127A>G