Canonical Allele Identifier: CA2090078
Community Standard Title: NM_000465.4(BARD1):c.2105T>C (p.Ile702Thr)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728905A>G , CM000664.2:g.214728905A>G GRCh38
NC_000002.11:g.215593629A>G , CM000664.1:g.215593629A>G GRCh37
NC_000002.10:g.215301874A>G NCBI36
NG_012047.2:g.85800T>C
NG_012047.3:g.85807T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.2105T>C MANE Select NP_000456.2:p.Ile702Thr
ENST00000260947.9:c.2105T>C MANE Select ENSP00000260947.4:p.Ile702Thr
NM_000465.3:c.2105T>C NP_000456.2:p.Ile702Thr
NM_001282543.1:c.2048T>C NP_001269472.1:p.Ile683Thr
NM_001282543.2:c.2048T>C NP_001269472.1:p.Ile683Thr
NM_001282545.1:c.752T>C NP_001269474.1:p.Ile251Thr
NM_001282545.2:c.752T>C NP_001269474.1:p.Ile251Thr
NM_001282548.1:c.695T>C NP_001269477.1:p.Ile232Thr
NM_001282548.2:c.695T>C NP_001269477.1:p.Ile232Thr
NM_001282549.1:c.566T>C NP_001269478.1:p.Ile189Thr
NM_001282549.2:c.566T>C NP_001269478.1:p.Ile189Thr
NR_104212.1:n.2098T>C
NR_104212.2:n.2070T>C
NR_104215.1:n.2041T>C
NR_104215.2:n.2013T>C
NR_104216.1:n.1297T>C
NR_104216.2:n.1269T>C
ENST00000260947.8:c.2105T>C ENSP00000260947.4:p.Ile702Thr
ENST00000421162.2:c.752T>C ENSP00000392245.2:p.Ile251Thr
ENST00000432456.5:c.248T>C
ENST00000455743.5:c.*1725T>C ENSP00000412186.1:n.*1725T>C
ENST00000471590.5:n.440T>C
ENST00000613192.1:c.275T>C ENSP00000483275.1:p.Ile92Thr
ENST00000613192.2:c.*168T>C ENSP00000483275.2:n.*168T>C
ENST00000613374.4:c.695T>C ENSP00000484464.1:p.Ile232Thr
ENST00000613374.5:c.695T>C ENSP00000484464.1:p.Ile232Thr
ENST00000613706.4:c.752T>C ENSP00000484976.1:p.Ile251Thr
ENST00000613706.5:c.1697T>C ENSP00000484976.2:p.Ile566Thr
ENST00000617164.4:c.2048T>C ENSP00000480470.1:p.Ile683Thr
ENST00000617164.5:c.2048T>C ENSP00000480470.1:p.Ile683Thr
ENST00000619009.4:c.566T>C ENSP00000482293.1:p.Ile189Thr
ENST00000619009.5:c.566T>C ENSP00000482293.1:p.Ile189Thr
ENST00000620057.4:c.*771T>C ENSP00000481988.1:n.*771T>C
ENST00000650978.1:c.3480T>C
XM_011511567.1:c.2051T>C XP_011509869.1:p.Ile684Thr
XM_017004613.1:c.2204T>C XP_016860102.1:p.Ile735Thr
XR_002959322.1:n.2471T>C