Canonical Allele Identifier: CA179627985
Gene: KCNB2 HGNC NCBI

Linked Data

dbSNP Id: rs993177245
gnomAD v3: 8-72866364-G-A
gnomAD v4: 8-72866364-G-A
MyVariant Identifiers: chr8:g.73778599G>A (hg19) chr8:g.72866364G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.72866364G>A , CM000670.2:g.72866364G>A GRCh38
NC_000008.10:g.73778599G>A , CM000670.1:g.73778599G>A GRCh37
NC_000008.9:g.73941153G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000523207.2:c.580-69571G>A MANE Select ENSP00000430846.1:n.580-69571G>A
ENST00000523207.1:c.580-69571G>A ENSP00000430846.1:n.580-69571G>A
NM_004770.2:c.580-69571G>A NP_004761.2:n.580-69571G>A
XM_017013981.1:c.-157+2660G>A XP_016869470.1:n.-157+2660G>A
XR_001745620.1:n.1141-69571G>A
XR_001745621.1:n.1141-69571G>A
NM_004770.3:c.580-69571G>A MANE Select NP_004761.2:n.580-69571G>A
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