Canonical Allele Identifier: CA12881142
Gene: KCNB2 HGNC NCBI
dbSNP:
10504543
gnomAD v2:
8:73778642 G / A
gnomAD v3:
8:72866407 G / A
gnomAD v4:
chr8-72866407-G-A
Joint Max Group AF 0.41665282 (NFE)
Genomes Max Group AF 0.41665282 (NFE)
MyVariant.info:
GRCh38 chr8:g.72866407G>A
GRCh37 chr8:g.73778642G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.72866407G>A , CM000670.2:g.72866407G>A GRCh38
NC_000008.10:g.73778642G>A , CM000670.1:g.73778642G>A GRCh37
NC_000008.9:g.73941196G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000523207.2:c.580-69528G>A MANE Select ENSP00000430846.1:n.580-69528G>A
ENST00000523207.1:c.580-69528G>A ENSP00000430846.1:n.580-69528G>A
NM_004770.2:c.580-69528G>A NP_004761.2:n.580-69528G>A
XM_017013981.1:c.-157+2703G>A XP_016869470.1:n.-157+2703G>A
XR_001745620.1:n.1141-69528G>A
XR_001745621.1:n.1141-69528G>A
NM_004770.3:c.580-69528G>A MANE Select NP_004761.2:n.580-69528G>A
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