Canonical Allele Identifier: CA586168551

Gene: KCNV2 PUM3

Linked Data

• ClinVar Variation Id: 867088
• ClinVar RCV Id: RCV001075621 ; RCV002557926
• dbSNP Id: rs1414078352
• gnomAD v2: 9-2729472-AGAC-A
• gnomAD v3: 9-2729472-AGAC-A
• gnomAD v4: 9-2729472-AGAC-A
• MyVariant Identifiers: chr9:g.2729473_2729475del (hg19) ; chr9:g.2729473_2729475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729473_2729475del , CM000671.2:g.2729473_2729475del	GRCh38
NC_000009.11:g.2729473_2729475del , CM000671.1:g.2729473_2729475del	GRCh37
NC_000009.10:g.2719473_2719475del	NCBI36
NG_012181.1:g.16948_16950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1384_1386del (KCNV2) MANE Select	ENSP00000371514.3:p.Asp462del
ENST00000382082.3:c.1384_1386del (KCNV2)	ENSP00000371514.3:p.Asp462del
ENST00000490444.2:c.277-8943_277-8941del (PUM3)	ENSP00000474467.1:n.277-8943_277-8941del
NM_133497.3:c.1384_1386del (KCNV2)	NP_598004.1:p.Asp462del
XR_929202.1:n.2029_2031del (KCNV2)
NM_133497.4:c.1384_1386del (KCNV2) MANE Select	NP_598004.1:p.Asp462del