Canonical Allele Identifier: CA463854028

Gene: KCNV2 PUM3

Linked Data

• MyVariant Identifiers: chr9:g.2729484A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729484A>C , CM000671.2:g.2729484A>C	GRCh38
NC_000009.11:g.2729484A>C , CM000671.1:g.2729484A>C	GRCh37
NC_000009.10:g.2719484A>C	NCBI36
NG_012181.1:g.16959A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1395A>C (KCNV2) MANE Select	ENSP00000371514.3:p.Pro465=
ENST00000382082.3:c.1395A>C (KCNV2)	ENSP00000371514.3:p.Pro465=
ENST00000490444.2:c.277-8952T>G (PUM3)	ENSP00000474467.1:n.277-8952T>G
NM_133497.3:c.1395A>C (KCNV2)	NP_598004.1:p.Pro465=
XR_929202.1:n.2040A>C (KCNV2)
NM_133497.4:c.1395A>C (KCNV2) MANE Select	NP_598004.1:p.Pro465=