Canonical Allele Identifier: CA2780823479
Gene: KCNB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.72866183_72866223del , CM000670.2:g.72866183_72866223del GRCh38
NC_000008.10:g.73778418_73778458del , CM000670.1:g.73778418_73778458del GRCh37
NC_000008.9:g.73940972_73941012del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000523207.2:c.580-69752_580-69712del MANE Select ENSP00000430846.1:n.580-69752_580-69712del
ENST00000523207.1:c.580-69752_580-69712del ENSP00000430846.1:n.580-69752_580-69712del
NM_004770.2:c.580-69752_580-69712del NP_004761.2:n.580-69752_580-69712del
XM_017013981.1:c.-157+2479_-157+2519del XP_016869470.1:n.-157+2479_-157+2519del
XR_001745620.1:n.1141-69752_1141-69712del
XR_001745621.1:n.1141-69752_1141-69712del
NM_004770.3:c.580-69752_580-69712del MANE Select NP_004761.2:n.580-69752_580-69712del