Canonical Allele Identifier: CA190707142
Gene: BNC2 HGNC NCBI

Linked Data

dbSNP Id: rs144418290
gnomAD v2: 9-16857956-G-A
gnomAD v3: 9-16857958-G-A
gnomAD v4: 9-16857958-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.16857958G>A , CM000671.2:g.16857958G>A GRCh38
NC_000009.11:g.16857956G>A , CM000671.1:g.16857956G>A GRCh37
NC_000009.10:g.16847956G>A NCBI36
NG_051226.1:g.17881C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380672.9:c.3+12688C>T MANE Select ENSP00000370047.3:n.3+12688C>T
ENST00000380666.6:c.-106+9991C>T ENSP00000370041.3:n.-106+9991C>T
ENST00000380667.6:c.3+12688C>T ENSP00000370042.1:n.3+12688C>T
ENST00000380672.8:c.3+12688C>T ENSP00000370047.3:n.3+12688C>T
ENST00000484726.5:c.3+12688C>T ENSP00000431516.1:n.3+12688C>T
ENST00000486514.5:c.3+12688C>T ENSP00000474647.1:n.3+12688C>T
ENST00000545497.5:c.-394+12688C>T ENSP00000444640.2:n.-394+12688C>T
ENST00000613349.4:c.-106+9401C>T ENSP00000477717.1:n.-106+9401C>T
ENST00000617779.1:c.-232+9401C>T ENSP00000482793.1:n.-232+9401C>T
NM_017637.5:c.3+12688C>T NP_060107.3:n.3+12688C>T
XM_011517921.1:c.3+12688C>T XP_011516223.1:n.3+12688C>T
XM_011517922.1:c.-63+12688C>T XP_011516224.1:n.-63+12688C>T
XM_011517923.1:c.-63+12688C>T XP_011516225.1:n.-63+12688C>T
XM_011517924.1:c.3+12688C>T XP_011516226.1:n.3+12688C>T
XM_011517926.1:c.3+12688C>T XP_011516228.1:n.3+12688C>T
XM_011517928.1:c.-63+12688C>T XP_011516230.1:n.-63+12688C>T
XM_011517933.1:c.3+12688C>T XP_011516235.1:n.3+12688C>T
NM_001317939.1:c.3+12688C>T NP_001304868.1:n.3+12688C>T
NM_001317940.1:c.-63+12688C>T NP_001304869.1:n.-63+12688C>T
XM_011517924.2:c.3+12688C>T XP_011516226.1:n.3+12688C>T
NM_017637.6:c.3+12688C>T MANE Select NP_060107.3:n.3+12688C>T
NM_001317939.2:c.3+12688C>T NP_001304868.1:n.3+12688C>T
NM_001317940.2:c.-63+12688C>T NP_001304869.1:n.-63+12688C>T