Canonical Allele Identifier: CA350450745
Community Standard Title: NM_000465.4(BARD1):c.2040G>A (p.Trp680Ter)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728970C>T , CM000664.2:g.214728970C>T GRCh38
NC_000002.11:g.215593694C>T , CM000664.1:g.215593694C>T GRCh37
NC_000002.10:g.215301939C>T NCBI36
NG_012047.2:g.85735G>A
NG_012047.3:g.85742G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.2040G>A MANE Select NP_000456.2:p.Trp680Ter
ENST00000260947.9:c.2040G>A MANE Select ENSP00000260947.4:p.Trp680Ter
NM_000465.3:c.2040G>A NP_000456.2:p.Trp680Ter
NM_001282543.1:c.1983G>A NP_001269472.1:p.Trp661Ter
NM_001282543.2:c.1983G>A NP_001269472.1:p.Trp661Ter
NM_001282545.1:c.687G>A NP_001269474.1:p.Trp229Ter
NM_001282545.2:c.687G>A NP_001269474.1:p.Trp229Ter
NM_001282548.1:c.630G>A NP_001269477.1:p.Trp210Ter
NM_001282548.2:c.630G>A NP_001269477.1:p.Trp210Ter
NM_001282549.1:c.501G>A NP_001269478.1:p.Trp167Ter
NM_001282549.2:c.501G>A NP_001269478.1:p.Trp167Ter
NR_104212.1:n.2033G>A
NR_104212.2:n.2005G>A
NR_104215.1:n.1976G>A
NR_104215.2:n.1948G>A
NR_104216.1:n.1232G>A
NR_104216.2:n.1204G>A
ENST00000260947.8:c.2040G>A ENSP00000260947.4:p.Trp680Ter
ENST00000421162.2:c.687G>A ENSP00000392245.2:p.Trp229Ter
ENST00000432456.5:c.183G>A
ENST00000455743.5:c.*1660G>A ENSP00000412186.1:n.*1660G>A
ENST00000471590.5:n.375G>A
ENST00000613192.1:c.210G>A ENSP00000483275.1:p.Trp70Ter
ENST00000613192.2:c.*103G>A ENSP00000483275.2:n.*103G>A
ENST00000613374.4:c.630G>A ENSP00000484464.1:p.Trp210Ter
ENST00000613374.5:c.630G>A ENSP00000484464.1:p.Trp210Ter
ENST00000613706.4:c.687G>A ENSP00000484976.1:p.Trp229Ter
ENST00000613706.5:c.1632G>A ENSP00000484976.2:p.Trp544Ter
ENST00000617164.4:c.1983G>A ENSP00000480470.1:p.Trp661Ter
ENST00000617164.5:c.1983G>A ENSP00000480470.1:p.Trp661Ter
ENST00000619009.4:c.501G>A ENSP00000482293.1:p.Trp167Ter
ENST00000619009.5:c.501G>A ENSP00000482293.1:p.Trp167Ter
ENST00000620057.4:c.*706G>A ENSP00000481988.1:n.*706G>A
ENST00000650978.1:c.3415G>A
XM_011511567.1:c.1986G>A XP_011509869.1:p.Trp662Ter
XM_017004613.1:c.2139G>A XP_016860102.1:p.Trp713Ter
XR_002959322.1:n.2406G>A