Canonical Allele Identifier: CA582771854
Gene: KCNB2 HGNC NCBI

Linked Data

dbSNP Id: rs1233350805
gnomAD v2: 8-73778466-C-T
gnomAD v3: 8-72866231-C-T
gnomAD v4: 8-72866231-C-T
MyVariant Identifiers: chr8:g.73778466C>T (hg19) chr8:g.72866231C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.72866231C>T , CM000670.2:g.72866231C>T GRCh38
NC_000008.10:g.73778466C>T , CM000670.1:g.73778466C>T GRCh37
NC_000008.9:g.73941020C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000523207.2:c.580-69704C>T MANE Select ENSP00000430846.1:n.580-69704C>T
ENST00000523207.1:c.580-69704C>T ENSP00000430846.1:n.580-69704C>T
NM_004770.2:c.580-69704C>T NP_004761.2:n.580-69704C>T
XM_017013981.1:c.-157+2527C>T XP_016869470.1:n.-157+2527C>T
XR_001745620.1:n.1141-69704C>T
XR_001745621.1:n.1141-69704C>T
NM_004770.3:c.580-69704C>T MANE Select NP_004761.2:n.580-69704C>T
Search 100 bp 5'
Search 100 bp 3'