Canonical Allele Identifier: CA350450418
Community Standard Title: NM_000465.4(BARD1):c.2166C>A (p.Tyr722Ter)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728844G>T , CM000664.2:g.214728844G>T GRCh38
NC_000002.11:g.215593568G>T , CM000664.1:g.215593568G>T GRCh37
NC_000002.10:g.215301813G>T NCBI36
NG_012047.2:g.85861C>A
NG_012047.3:g.85868C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.2166C>A MANE Select NP_000456.2:p.Tyr722Ter
ENST00000260947.9:c.2166C>A MANE Select ENSP00000260947.4:p.Tyr722Ter
NM_000465.3:c.2166C>A NP_000456.2:p.Tyr722Ter
NM_001282543.1:c.2109C>A NP_001269472.1:p.Tyr703Ter
NM_001282543.2:c.2109C>A NP_001269472.1:p.Tyr703Ter
NM_001282545.1:c.813C>A NP_001269474.1:p.Tyr271Ter
NM_001282545.2:c.813C>A NP_001269474.1:p.Tyr271Ter
NM_001282548.1:c.756C>A NP_001269477.1:p.Tyr252Ter
NM_001282548.2:c.756C>A NP_001269477.1:p.Tyr252Ter
NM_001282549.1:c.627C>A NP_001269478.1:p.Tyr209Ter
NM_001282549.2:c.627C>A NP_001269478.1:p.Tyr209Ter
NR_104212.1:n.2159C>A
NR_104212.2:n.2131C>A
NR_104215.1:n.2102C>A
NR_104215.2:n.2074C>A
NR_104216.1:n.1358C>A
NR_104216.2:n.1330C>A
ENST00000260947.8:c.2166C>A ENSP00000260947.4:p.Tyr722Ter
ENST00000421162.2:c.813C>A ENSP00000392245.2:p.Tyr271Ter
ENST00000432456.5:c.309C>A
ENST00000455743.5:c.*1786C>A ENSP00000412186.1:n.*1786C>A
ENST00000471590.5:n.501C>A
ENST00000613192.1:c.336C>A ENSP00000483275.1:p.Tyr112Ter
ENST00000613192.2:c.*229C>A ENSP00000483275.2:n.*229C>A
ENST00000613374.4:c.756C>A ENSP00000484464.1:p.Tyr252Ter
ENST00000613374.5:c.756C>A ENSP00000484464.1:p.Tyr252Ter
ENST00000613706.4:c.813C>A ENSP00000484976.1:p.Tyr271Ter
ENST00000613706.5:c.1758C>A ENSP00000484976.2:p.Tyr586Ter
ENST00000617164.4:c.2109C>A ENSP00000480470.1:p.Tyr703Ter
ENST00000617164.5:c.2109C>A ENSP00000480470.1:p.Tyr703Ter
ENST00000619009.4:c.627C>A ENSP00000482293.1:p.Tyr209Ter
ENST00000619009.5:c.627C>A ENSP00000482293.1:p.Tyr209Ter
ENST00000620057.4:c.*832C>A ENSP00000481988.1:n.*832C>A
ENST00000650978.1:c.3541C>A
XM_011511567.1:c.2112C>A XP_011509869.1:p.Tyr704Ter
XM_017004613.1:c.2265C>A XP_016860102.1:p.Tyr755Ter
XR_002959322.1:n.2532C>A