Canonical Allele Identifier: CA179627961
Gene: KCNB2 HGNC NCBI

Linked Data

dbSNP Id: rs911517777
gnomAD v2: 8-73778374-A-C
MyVariant Identifiers: chr8:g.73778374A>C (hg19) chr8:g.72866139A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.72866139A>C , CM000670.2:g.72866139A>C GRCh38
NC_000008.10:g.73778374A>C , CM000670.1:g.73778374A>C GRCh37
NC_000008.9:g.73940928A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000523207.2:c.580-69796A>C MANE Select ENSP00000430846.1:n.580-69796A>C
ENST00000523207.1:c.580-69796A>C ENSP00000430846.1:n.580-69796A>C
NM_004770.2:c.580-69796A>C NP_004761.2:n.580-69796A>C
XM_017013981.1:c.-157+2435A>C XP_016869470.1:n.-157+2435A>C
XR_001745620.1:n.1141-69796A>C
XR_001745621.1:n.1141-69796A>C
NM_004770.3:c.580-69796A>C MANE Select NP_004761.2:n.580-69796A>C
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