Canonical Allele Identifier: CA463853622
Gene: KCNV2 HGNC NCBI

Linked Data

dbSNP Id: rs767476582
gnomAD v2: 9-2718558-C-G
gnomAD v3: 9-2718558-C-G
gnomAD v4: 9-2718558-C-G
MyVariant Identifiers: chr9:g.2718558C>G (hg19) chr9:g.2718558C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2718558C>G , CM000671.2:g.2718558C>G GRCh38
NC_000009.11:g.2718558C>G , CM000671.1:g.2718558C>G GRCh37
NC_000009.10:g.2708558C>G NCBI36
NG_012181.1:g.6033C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.819C>G MANE Select ENSP00000371514.3:p.Ser273=
ENST00000382082.3:c.819C>G ENSP00000371514.3:p.Ser273=
NM_133497.3:c.819C>G NP_598004.1:p.Ser273=
XR_929202.1:n.1320C>G
XR_929203.1:n.1320C>G
NM_133497.4:c.819C>G MANE Select NP_598004.1:p.Ser273=
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