Canonical Allele Identifier: CA179627966
Gene: KCNB2 HGNC NCBI

Linked Data

dbSNP Id: rs758079137
gnomAD v2: 8-73778452-C-T
gnomAD v3: 8-72866217-C-T
gnomAD v4: 8-72866217-C-T
MyVariant Identifiers: chr8:g.73778452C>T (hg19) chr8:g.72866217C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.72866217C>T , CM000670.2:g.72866217C>T GRCh38
NC_000008.10:g.73778452C>T , CM000670.1:g.73778452C>T GRCh37
NC_000008.9:g.73941006C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000523207.2:c.580-69718C>T MANE Select ENSP00000430846.1:n.580-69718C>T
ENST00000523207.1:c.580-69718C>T ENSP00000430846.1:n.580-69718C>T
NM_004770.2:c.580-69718C>T NP_004761.2:n.580-69718C>T
XM_017013981.1:c.-157+2513C>T XP_016869470.1:n.-157+2513C>T
XR_001745620.1:n.1141-69718C>T
XR_001745621.1:n.1141-69718C>T
NM_004770.3:c.580-69718C>T MANE Select NP_004761.2:n.580-69718C>T
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