Canonical Allele Identifier: CA1115261142
Gene: KCNB2 HGNC NCBI

Linked Data

dbSNP Id: rs1805517679
gnomAD v3: 8-72866332-T-A
gnomAD v4: 8-72866332-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.72866332T>A , CM000670.2:g.72866332T>A GRCh38
NC_000008.10:g.73778567T>A , CM000670.1:g.73778567T>A GRCh37
NC_000008.9:g.73941121T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000523207.2:c.580-69603T>A MANE Select ENSP00000430846.1:n.580-69603T>A
ENST00000523207.1:c.580-69603T>A ENSP00000430846.1:n.580-69603T>A
NM_004770.2:c.580-69603T>A NP_004761.2:n.580-69603T>A
XM_017013981.1:c.-157+2628T>A XP_016869470.1:n.-157+2628T>A
XR_001745620.1:n.1141-69603T>A
XR_001745621.1:n.1141-69603T>A
NM_004770.3:c.580-69603T>A MANE Select NP_004761.2:n.580-69603T>A