Canonical Allele Identifier: CA4965681
Gene: KCNV2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.2718655G>A
GRCh37 chr9:g.2718655G>A
Revel Score:
ENST00000382082 (MANE Select) 0.933
ENST00000423608 0.325
gnomAD v2:
9:2718655 G / A
gnomAD v3:
9:2718655 G / A
gnomAD v4:
chr9-2718655-G-A
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2718655G>A , CM000671.2:g.2718655G>A GRCh38
NC_000009.11:g.2718655G>A , CM000671.1:g.2718655G>A GRCh37
NC_000009.10:g.2708655G>A NCBI36
NG_012181.1:g.6130G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.916G>A MANE Select ENSP00000371514.3:p.Glu306Lys
ENST00000382082.3:c.916G>A ENSP00000371514.3:p.Glu306Lys
NM_133497.3:c.916G>A NP_598004.1:p.Glu306Lys
XR_929202.1:n.1417G>A
XR_929203.1:n.1417G>A
NM_133497.4:c.916G>A MANE Select NP_598004.1:p.Glu306Lys
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