Canonical Allele Identifier: CA652423201
Gene: KCNB2 HGNC NCBI

Linked Data

dbSNP Id: rs1362475487
gnomAD v3: 8-72866360-G-A
gnomAD v4: 8-72866360-G-A
COSMIC: COSN207791

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.72866360G>A , CM000670.2:g.72866360G>A GRCh38
NC_000008.10:g.73778595G>A , CM000670.1:g.73778595G>A GRCh37
NC_000008.9:g.73941149G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000523207.2:c.580-69575G>A MANE Select ENSP00000430846.1:n.580-69575G>A
ENST00000523207.1:c.580-69575G>A ENSP00000430846.1:n.580-69575G>A
NM_004770.2:c.580-69575G>A NP_004761.2:n.580-69575G>A
XM_017013981.1:c.-157+2656G>A XP_016869470.1:n.-157+2656G>A
XR_001745620.1:n.1141-69575G>A
XR_001745621.1:n.1141-69575G>A
NM_004770.3:c.580-69575G>A MANE Select NP_004761.2:n.580-69575G>A