Canonical Allele Identifier: CA350450595
Community Standard Title: NM_000465.4(BARD1):c.2113A>T (p.Arg705Ter)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728897T>A , CM000664.2:g.214728897T>A GRCh38
NC_000002.11:g.215593621T>A , CM000664.1:g.215593621T>A GRCh37
NC_000002.10:g.215301866T>A NCBI36
NG_012047.2:g.85808A>T
NG_012047.3:g.85815A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.2113A>T MANE Select NP_000456.2:p.Arg705Ter
ENST00000260947.9:c.2113A>T MANE Select ENSP00000260947.4:p.Arg705Ter
NM_000465.3:c.2113A>T NP_000456.2:p.Arg705Ter
NM_001282543.1:c.2056A>T NP_001269472.1:p.Arg686Ter
NM_001282543.2:c.2056A>T NP_001269472.1:p.Arg686Ter
NM_001282545.1:c.760A>T NP_001269474.1:p.Arg254Ter
NM_001282545.2:c.760A>T NP_001269474.1:p.Arg254Ter
NM_001282548.1:c.703A>T NP_001269477.1:p.Arg235Ter
NM_001282548.2:c.703A>T NP_001269477.1:p.Arg235Ter
NM_001282549.1:c.574A>T NP_001269478.1:p.Arg192Ter
NM_001282549.2:c.574A>T NP_001269478.1:p.Arg192Ter
NR_104212.1:n.2106A>T
NR_104212.2:n.2078A>T
NR_104215.1:n.2049A>T
NR_104215.2:n.2021A>T
NR_104216.1:n.1305A>T
NR_104216.2:n.1277A>T
ENST00000260947.8:c.2113A>T ENSP00000260947.4:p.Arg705Ter
ENST00000421162.2:c.760A>T ENSP00000392245.2:p.Arg254Ter
ENST00000432456.5:c.256A>T
ENST00000455743.5:c.*1733A>T ENSP00000412186.1:n.*1733A>T
ENST00000471590.5:n.448A>T
ENST00000613192.1:c.283A>T ENSP00000483275.1:p.Arg95Ter
ENST00000613192.2:c.*176A>T ENSP00000483275.2:n.*176A>T
ENST00000613374.4:c.703A>T ENSP00000484464.1:p.Arg235Ter
ENST00000613374.5:c.703A>T ENSP00000484464.1:p.Arg235Ter
ENST00000613706.4:c.760A>T ENSP00000484976.1:p.Arg254Ter
ENST00000613706.5:c.1705A>T ENSP00000484976.2:p.Arg569Ter
ENST00000617164.4:c.2056A>T ENSP00000480470.1:p.Arg686Ter
ENST00000617164.5:c.2056A>T ENSP00000480470.1:p.Arg686Ter
ENST00000619009.4:c.574A>T ENSP00000482293.1:p.Arg192Ter
ENST00000619009.5:c.574A>T ENSP00000482293.1:p.Arg192Ter
ENST00000620057.4:c.*779A>T ENSP00000481988.1:n.*779A>T
ENST00000650978.1:c.3488A>T
XM_011511567.1:c.2059A>T XP_011509869.1:p.Arg687Ter
XM_017004613.1:c.2212A>T XP_016860102.1:p.Arg738Ter
XR_002959322.1:n.2479A>T