Canonical Allele Identifier: CA350451123

Gene: BARD1

Linked Data

• COSMIC: COSM720085 ; COSM1148991
• MyVariant Identifiers: chr2:g.215595156G>C (hg19) ; chr2:g.214730432G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730432G>C , CM000664.2:g.214730432G>C	GRCh38
NC_000002.11:g.215595156G>C , CM000664.1:g.215595156G>C	GRCh37
NC_000002.10:g.215303401G>C	NCBI36
NG_012047.2:g.84273C>G
NG_012047.3:g.84280C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1980C>G MANE Select	ENSP00000260947.4:p.Ser660Arg
ENST00000421162.2:c.627C>G	ENSP00000392245.2:p.Ser209Arg
ENST00000613192.2:c.*43C>G	ENSP00000483275.2:n.*43C>G
ENST00000613374.5:c.570C>G	ENSP00000484464.1:p.Ser190Arg
ENST00000613706.5:c.1572C>G	ENSP00000484976.2:p.Ser524Arg
ENST00000617164.5:c.1923C>G	ENSP00000480470.1:p.Ser641Arg
ENST00000619009.5:c.441C>G	ENSP00000482293.1:p.Ser147Arg
ENST00000650978.1:c.3355C>G
ENST00000260947.8:c.1980C>G	ENSP00000260947.4:p.Ser660Arg
ENST00000421162.1:c.627C>G	ENSP00000392245.1:p.Ser209Arg
ENST00000432456.5:c.77C>G
ENST00000455743.5:c.*1600C>G	ENSP00000412186.1:n.*1600C>G
ENST00000471590.5:n.315C>G
ENST00000613192.1:c.150C>G	ENSP00000483275.1:p.Ser50Arg
ENST00000613374.4:c.570C>G	ENSP00000484464.1:p.Ser190Arg
ENST00000613706.4:c.627C>G	ENSP00000484976.1:p.Ser209Arg
ENST00000617164.4:c.1923C>G	ENSP00000480470.1:p.Ser641Arg
ENST00000619009.4:c.441C>G	ENSP00000482293.1:p.Ser147Arg
ENST00000620057.4:c.*646C>G	ENSP00000481988.1:n.*646C>G
NM_000465.3:c.1980C>G	NP_000456.2:p.Ser660Arg
NM_001282543.1:c.1923C>G	NP_001269472.1:p.Ser641Arg
NM_001282545.1:c.627C>G	NP_001269474.1:p.Ser209Arg
NM_001282548.1:c.570C>G	NP_001269477.1:p.Ser190Arg
NM_001282549.1:c.441C>G	NP_001269478.1:p.Ser147Arg
NR_104212.1:n.1973C>G
NR_104215.1:n.1916C>G
NR_104216.1:n.1172C>G
XM_011511567.1:c.1926C>G	XP_011509869.1:p.Ser642Arg
XM_017004613.1:c.2079C>G	XP_016860102.1:p.Ser693Arg
XR_002959322.1:n.2170C>G
NM_000465.4:c.1980C>G MANE Select	NP_000456.2:p.Ser660Arg
NM_001282543.2:c.1923C>G	NP_001269472.1:p.Ser641Arg
NM_001282545.2:c.627C>G	NP_001269474.1:p.Ser209Arg
NM_001282548.2:c.570C>G	NP_001269477.1:p.Ser190Arg
NM_001282549.2:c.441C>G	NP_001269478.1:p.Ser147Arg
NR_104212.2:n.1945C>G
NR_104215.2:n.1888C>G
NR_104216.2:n.1144C>G