Canonical Allele Identifier: CA4965907

Gene: KCNV2 PUM3

Linked Data

• ClinVar Variation Id: 262359
• ClinVar RCV Id: RCV000250908 ; RCV000312675 ; RCV001514495
• dbSNP Id: rs41312842
• ExAC: 9:2729475 C / T
• gnomAD v2: 9-2729475-C-T
• gnomAD v3: 9-2729475-C-T
• gnomAD v4: 9-2729475-C-T
• MyVariant Identifiers: chr9:g.2729475C>T (hg19) ; chr9:g.2729475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729475C>T , CM000671.2:g.2729475C>T	GRCh38
NC_000009.11:g.2729475C>T , CM000671.1:g.2729475C>T	GRCh37
NC_000009.10:g.2719475C>T	NCBI36
NG_012181.1:g.16950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1386C>T (KCNV2) MANE Select	ENSP00000371514.3:p.Asp462=
ENST00000382082.3:c.1386C>T (KCNV2)	ENSP00000371514.3:p.Asp462=
ENST00000490444.2:c.277-8943G>A (PUM3)	ENSP00000474467.1:n.277-8943G>A
NM_133497.3:c.1386C>T (KCNV2)	NP_598004.1:p.Asp462=
XR_929202.1:n.2031C>T (KCNV2)
NM_133497.4:c.1386C>T (KCNV2) MANE Select	NP_598004.1:p.Asp462=