Canonical Allele Identifier: CA350450610
Community Standard Title: NM_000465.4(BARD1):c.2106C>G (p.Ile702Met)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728904G>C , CM000664.2:g.214728904G>C GRCh38
NC_000002.11:g.215593628G>C , CM000664.1:g.215593628G>C GRCh37
NC_000002.10:g.215301873G>C NCBI36
NG_012047.2:g.85801C>G
NG_012047.3:g.85808C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.2106C>G MANE Select NP_000456.2:p.Ile702Met
ENST00000260947.9:c.2106C>G MANE Select ENSP00000260947.4:p.Ile702Met
NM_000465.3:c.2106C>G NP_000456.2:p.Ile702Met
NM_001282543.1:c.2049C>G NP_001269472.1:p.Ile683Met
NM_001282543.2:c.2049C>G NP_001269472.1:p.Ile683Met
NM_001282545.1:c.753C>G NP_001269474.1:p.Ile251Met
NM_001282545.2:c.753C>G NP_001269474.1:p.Ile251Met
NM_001282548.1:c.696C>G NP_001269477.1:p.Ile232Met
NM_001282548.2:c.696C>G NP_001269477.1:p.Ile232Met
NM_001282549.1:c.567C>G NP_001269478.1:p.Ile189Met
NM_001282549.2:c.567C>G NP_001269478.1:p.Ile189Met
NR_104212.1:n.2099C>G
NR_104212.2:n.2071C>G
NR_104215.1:n.2042C>G
NR_104215.2:n.2014C>G
NR_104216.1:n.1298C>G
NR_104216.2:n.1270C>G
ENST00000260947.8:c.2106C>G ENSP00000260947.4:p.Ile702Met
ENST00000421162.2:c.753C>G ENSP00000392245.2:p.Ile251Met
ENST00000432456.5:c.249C>G
ENST00000455743.5:c.*1726C>G ENSP00000412186.1:n.*1726C>G
ENST00000471590.5:n.441C>G
ENST00000613192.1:c.276C>G ENSP00000483275.1:p.Ile92Met
ENST00000613192.2:c.*169C>G ENSP00000483275.2:n.*169C>G
ENST00000613374.4:c.696C>G ENSP00000484464.1:p.Ile232Met
ENST00000613374.5:c.696C>G ENSP00000484464.1:p.Ile232Met
ENST00000613706.4:c.753C>G ENSP00000484976.1:p.Ile251Met
ENST00000613706.5:c.1698C>G ENSP00000484976.2:p.Ile566Met
ENST00000617164.4:c.2049C>G ENSP00000480470.1:p.Ile683Met
ENST00000617164.5:c.2049C>G ENSP00000480470.1:p.Ile683Met
ENST00000619009.4:c.567C>G ENSP00000482293.1:p.Ile189Met
ENST00000619009.5:c.567C>G ENSP00000482293.1:p.Ile189Met
ENST00000620057.4:c.*772C>G ENSP00000481988.1:n.*772C>G
ENST00000650978.1:c.3481C>G
XM_011511567.1:c.2052C>G XP_011509869.1:p.Ile684Met
XM_017004613.1:c.2205C>G XP_016860102.1:p.Ile735Met
XR_002959322.1:n.2472C>G