Canonical Allele Identifier: CA2090115
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 231509
dbSNP Id: rs752870879

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730490C>T , CM000664.2:g.214730490C>T GRCh38
NC_000002.11:g.215595214C>T , CM000664.1:g.215595214C>T GRCh37
NC_000002.10:g.215303459C>T NCBI36
NG_012047.2:g.84215G>A
NG_012047.3:g.84222G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1922G>A MANE Select ENSP00000260947.4:p.Arg641Gln
ENST00000421162.2:c.569G>A ENSP00000392245.2:p.Arg190Gln
ENST00000613192.2:c.177G>A ENSP00000483275.2:p.Thr59=
ENST00000613374.5:c.512G>A ENSP00000484464.1:p.Arg171Gln
ENST00000613706.5:c.1514G>A ENSP00000484976.2:p.Arg505Gln
ENST00000617164.5:c.1865G>A ENSP00000480470.1:p.Arg622Gln
ENST00000619009.5:c.383G>A ENSP00000482293.1:p.Arg128Gln
ENST00000650978.1:c.3297G>A
ENST00000260947.8:c.1922G>A ENSP00000260947.4:p.Arg641Gln
ENST00000421162.1:c.569G>A ENSP00000392245.1:p.Arg190Gln
ENST00000432456.5:c.19G>A
ENST00000455743.5:c.*1542G>A ENSP00000412186.1:n.*1542G>A
ENST00000471590.5:n.257G>A
ENST00000613192.1:c.92G>A ENSP00000483275.1:p.Arg31Gln
ENST00000613374.4:c.512G>A ENSP00000484464.1:p.Arg171Gln
ENST00000613706.4:c.569G>A ENSP00000484976.1:p.Arg190Gln
ENST00000617164.4:c.1865G>A ENSP00000480470.1:p.Arg622Gln
ENST00000619009.4:c.383G>A ENSP00000482293.1:p.Arg128Gln
ENST00000620057.4:c.*588G>A ENSP00000481988.1:n.*588G>A
NM_000465.3:c.1922G>A NP_000456.2:p.Arg641Gln
NM_001282543.1:c.1865G>A NP_001269472.1:p.Arg622Gln
NM_001282545.1:c.569G>A NP_001269474.1:p.Arg190Gln
NM_001282548.1:c.512G>A NP_001269477.1:p.Arg171Gln
NM_001282549.1:c.383G>A NP_001269478.1:p.Arg128Gln
NR_104212.1:n.1915G>A
NR_104215.1:n.1858G>A
NR_104216.1:n.1114G>A
XM_011511567.1:c.1868G>A XP_011509869.1:p.Arg623Gln
XM_017004613.1:c.2021G>A XP_016860102.1:p.Arg674Gln
XR_002959322.1:n.2112G>A
NM_000465.4:c.1922G>A MANE Select NP_000456.2:p.Arg641Gln
NM_001282543.2:c.1865G>A NP_001269472.1:p.Arg622Gln
NM_001282545.2:c.569G>A NP_001269474.1:p.Arg190Gln
NM_001282548.2:c.512G>A NP_001269477.1:p.Arg171Gln
NM_001282549.2:c.383G>A NP_001269478.1:p.Arg128Gln
NR_104212.2:n.1887G>A
NR_104215.2:n.1830G>A
NR_104216.2:n.1086G>A