Canonical Allele Identifier: CA372799529
Gene: KCNV2 HGNC NCBI

Linked Data

gnomAD v4: 9-2718556-T-A
MyVariant Identifiers: chr9:g.2718556T>A (hg19) chr9:g.2718556T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2718556T>A , CM000671.2:g.2718556T>A GRCh38
NC_000009.11:g.2718556T>A , CM000671.1:g.2718556T>A GRCh37
NC_000009.10:g.2708556T>A NCBI36
NG_012181.1:g.6031T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.817T>A MANE Select ENSP00000371514.3:p.Ser273Thr
ENST00000382082.3:c.817T>A ENSP00000371514.3:p.Ser273Thr
NM_133497.3:c.817T>A NP_598004.1:p.Ser273Thr
XR_929202.1:n.1318T>A
XR_929203.1:n.1318T>A
NM_133497.4:c.817T>A MANE Select NP_598004.1:p.Ser273Thr
Search 100 bp 5'
Search 100 bp 3'