Canonical Allele Identifier: CA2523649498
Gene: KCNB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.72866379_72866380del , CM000670.2:g.72866379_72866380del GRCh38
NC_000008.10:g.73778614_73778615del , CM000670.1:g.73778614_73778615del GRCh37
NC_000008.9:g.73941168_73941169del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000523207.2:c.580-69556_580-69555del MANE Select ENSP00000430846.1:n.580-69556_580-69555del
ENST00000523207.1:c.580-69556_580-69555del ENSP00000430846.1:n.580-69556_580-69555del
NM_004770.2:c.580-69556_580-69555del NP_004761.2:n.580-69556_580-69555del
XM_017013981.1:c.-157+2675_-157+2676del XP_016869470.1:n.-157+2675_-157+2676del
XR_001745620.1:n.1141-69556_1141-69555del
XR_001745621.1:n.1141-69556_1141-69555del
NM_004770.3:c.580-69556_580-69555del MANE Select NP_004761.2:n.580-69556_580-69555del