Canonical Allele Identifier: CA187971394
Gene: KCNV2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.2718166G>A
GRCh37 chr9:g.2718166G>A
Revel Score:
ENST00000423608 0.239
ENST00000382082 (MANE Select) 0.239
gnomAD v4:
chr9-2718166-G-A
Joint Max Group AF 0.00000542 (NFE)
Exomes Max Group AF 0.00000576 (NFE)
ClinVar RCV:
RCV001215041
ClinVar Variation:
944610
dbSNP:
104894113
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2718166G>A , CM000671.2:g.2718166G>A GRCh38
NC_000009.11:g.2718166G>A , CM000671.1:g.2718166G>A GRCh37
NC_000009.10:g.2708166G>A NCBI36
NG_012181.1:g.5641G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.427G>A MANE Select ENSP00000371514.3:p.Glu143Lys
ENST00000382082.3:c.427G>A ENSP00000371514.3:p.Glu143Lys
NM_133497.3:c.427G>A NP_598004.1:p.Glu143Lys
XR_929202.1:n.928G>A
XR_929203.1:n.928G>A
NM_133497.4:c.427G>A MANE Select NP_598004.1:p.Glu143Lys
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