Canonical Allele Identifier: CA463853629
Gene: KCNV2 HGNC NCBI

Linked Data

dbSNP Id: rs149605734
gnomAD v2: 9-2718561-G-T
gnomAD v4: 9-2718561-G-T
MyVariant Identifiers: chr9:g.2718561G>T (hg19) chr9:g.2718561G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2718561G>T , CM000671.2:g.2718561G>T GRCh38
NC_000009.11:g.2718561G>T , CM000671.1:g.2718561G>T GRCh37
NC_000009.10:g.2708561G>T NCBI36
NG_012181.1:g.6036G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.822G>T MANE Select ENSP00000371514.3:p.Val274=
ENST00000382082.3:c.822G>T ENSP00000371514.3:p.Val274=
NM_133497.3:c.822G>T NP_598004.1:p.Val274=
XR_929202.1:n.1323G>T
XR_929203.1:n.1323G>T
NM_133497.4:c.822G>T MANE Select NP_598004.1:p.Val274=
Search 100 bp 5'
Search 100 bp 3'