Canonical Allele Identifier: CA1120583729

Gene: KCNV2 PUM3

Linked Data

• dbSNP Id: rs1820019445
• gnomAD v3: 9-2729115-C-G
• gnomAD v4: 9-2729115-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729115C>G , CM000671.2:g.2729115C>G	GRCh38
NC_000009.11:g.2729115C>G , CM000671.1:g.2729115C>G	GRCh37
NC_000009.10:g.2719115C>G	NCBI36
NG_012181.1:g.16590C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1357-331C>G (KCNV2) MANE Select	ENSP00000371514.3:n.1357-331C>G
ENST00000382082.3:c.1357-331C>G (KCNV2)	ENSP00000371514.3:n.1357-331C>G
ENST00000490444.2:c.277-8583G>C (PUM3)	ENSP00000474467.1:n.277-8583G>C
NM_133497.3:c.1357-331C>G (KCNV2)	NP_598004.1:n.1357-331C>G
XR_929202.1:n.2002-331C>G (KCNV2)
XR_929203.1:n.2091C>G (KCNV2)
NM_133497.4:c.1357-331C>G (KCNV2) MANE Select	NP_598004.1:n.1357-331C>G