Canonical Allele Identifier: CA862716519

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_2718763dup , CM000671.2:g.2718755_2718763dup	GRCh38
NC_000009.11:g.2718755_2718763dup , CM000671.1:g.2718755_2718763dup	GRCh37
NC_000009.10:g.2708755_2708763dup	NCBI36
NG_012181.1:g.6230_6238dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1016_1024dup MANE Select	ENSP00000371514.3:p.Val341_Ala342insAspLeuVal
ENST00000382082.3:c.1016_1024dup	ENSP00000371514.3:p.Val341_Ala342insAspLeuVal
NM_133497.3:c.1016_1024dup	NP_598004.1:p.Val341_Ala342insAspLeuVal
XR_929202.1:n.1517_1525dup
XR_929203.1:n.1517_1525dup
NM_133497.4:c.1016_1024dup MANE Select	NP_598004.1:p.Val341_Ala342insAspLeuVal