Canonical Allele Identifier: CA372796067
Gene: KCNV2 HGNC NCBI

Linked Data

gnomAD v4: 9-2717967-G-C
MyVariant Identifiers: chr9:g.2717967G>C (hg19) chr9:g.2717967G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717967G>C , CM000671.2:g.2717967G>C GRCh38
NC_000009.11:g.2717967G>C , CM000671.1:g.2717967G>C GRCh37
NC_000009.10:g.2707967G>C NCBI36
NG_012181.1:g.5442G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.228G>C MANE Select ENSP00000371514.3:p.Gln76His
ENST00000382082.3:c.228G>C ENSP00000371514.3:p.Gln76His
NM_133497.3:c.228G>C NP_598004.1:p.Gln76His
XR_929202.1:n.729G>C
XR_929203.1:n.729G>C
NM_133497.4:c.228G>C MANE Select NP_598004.1:p.Gln76His
Search 100 bp 5'
Search 100 bp 3'