Canonical Allele Identifier: CA115921

Gene: KCNV2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2718755_2718763del , CM000671.2:g.2718755_2718763del	GRCh38
NC_000009.11:g.2718755_2718763del , CM000671.1:g.2718755_2718763del	GRCh37
NC_000009.10:g.2708755_2708763del	NCBI36
NG_012181.1:g.6230_6238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1016_1024del MANE Select	ENSP00000371514.3:p.Asp339_Val341del
ENST00000382082.3:c.1016_1024del	ENSP00000371514.3:p.Asp339_Val341del
NM_133497.3:c.1016_1024del	NP_598004.1:p.Asp339_Val341del
XR_929202.1:n.1517_1525del
XR_929203.1:n.1517_1525del
NM_133497.4:c.1016_1024del MANE Select	NP_598004.1:p.Asp339_Val341del