Canonical Allele Identifier: CA463854069

Gene: KCNV2 PUM3

Linked Data

• gnomAD v4: 9-2729547-G-C
• MyVariant Identifiers: chr9:g.2729547G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729547G>C , CM000671.2:g.2729547G>C	GRCh38
NC_000009.11:g.2729547G>C , CM000671.1:g.2729547G>C	GRCh37
NC_000009.10:g.2719547G>C	NCBI36
NG_012181.1:g.17022G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1458G>C (KCNV2) MANE Select	ENSP00000371514.3:p.Gly486=
ENST00000382082.3:c.1458G>C (KCNV2)	ENSP00000371514.3:p.Gly486=
ENST00000490444.2:c.277-9015C>G (PUM3)	ENSP00000474467.1:n.277-9015C>G
NM_133497.3:c.1458G>C (KCNV2)	NP_598004.1:p.Gly486=
NM_133497.4:c.1458G>C (KCNV2) MANE Select	NP_598004.1:p.Gly486=