Canonical Allele Identifier: CA582771841

Gene: KCNB2

Linked Data

• dbSNP Id: rs1477924633
• gnomAD v2: 8-73778308-T-A
• gnomAD v3: 8-72866073-T-A
• gnomAD v4: 8-72866073-T-A
• MyVariant Identifiers: chr8:g.73778308T>A (hg19) ; chr8:g.72866073T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.72866073T>A , CM000670.2:g.72866073T>A	GRCh38
NC_000008.10:g.73778308T>A , CM000670.1:g.73778308T>A	GRCh37
NC_000008.9:g.73940862T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523207.2:c.580-69862T>A MANE Select	ENSP00000430846.1:n.580-69862T>A
ENST00000523207.1:c.580-69862T>A	ENSP00000430846.1:n.580-69862T>A
NM_004770.2:c.580-69862T>A	NP_004761.2:n.580-69862T>A
XM_017013981.1:c.-157+2369T>A	XP_016869470.1:n.-157+2369T>A
XR_001745620.1:n.1141-69862T>A
XR_001745621.1:n.1141-69862T>A
NM_004770.3:c.580-69862T>A MANE Select	NP_004761.2:n.580-69862T>A