Canonical Allele Identifier: CA431139669

Gene: BARD1

Linked Data

• ClinVar Variation Id: 482792
• ClinVar RCV Id: RCV000565253
• dbSNP Id: rs780901872
• MyVariant Identifiers: chr2:g.215595216T>G (hg19) ; chr2:g.214730492T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730492T>G , CM000664.2:g.214730492T>G	GRCh38
NC_000002.11:g.215595216T>G , CM000664.1:g.215595216T>G	GRCh37
NC_000002.10:g.215303461T>G	NCBI36
NG_012047.2:g.84213A>C
NG_012047.3:g.84220A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1920A>C MANE Select	ENSP00000260947.4:p.Leu640=
ENST00000421162.2:c.567A>C	ENSP00000392245.2:p.Leu189=
ENST00000613192.2:c.175A>C	ENSP00000483275.2:p.Thr59Pro
ENST00000613374.5:c.510A>C	ENSP00000484464.1:p.Leu170=
ENST00000613706.5:c.1512A>C	ENSP00000484976.2:p.Leu504=
ENST00000617164.5:c.1863A>C	ENSP00000480470.1:p.Leu621=
ENST00000619009.5:c.381A>C	ENSP00000482293.1:p.Leu127=
ENST00000650978.1:c.3295A>C
ENST00000260947.8:c.1920A>C	ENSP00000260947.4:p.Leu640=
ENST00000421162.1:c.567A>C	ENSP00000392245.1:p.Leu189=
ENST00000432456.5:c.17A>C
ENST00000455743.5:c.*1540A>C	ENSP00000412186.1:n.*1540A>C
ENST00000471590.5:n.255A>C
ENST00000613192.1:c.90A>C	ENSP00000483275.1:p.Leu30=
ENST00000613374.4:c.510A>C	ENSP00000484464.1:p.Leu170=
ENST00000613706.4:c.567A>C	ENSP00000484976.1:p.Leu189=
ENST00000617164.4:c.1863A>C	ENSP00000480470.1:p.Leu621=
ENST00000619009.4:c.381A>C	ENSP00000482293.1:p.Leu127=
ENST00000620057.4:c.*586A>C	ENSP00000481988.1:n.*586A>C
NM_000465.3:c.1920A>C	NP_000456.2:p.Leu640=
NM_001282543.1:c.1863A>C	NP_001269472.1:p.Leu621=
NM_001282545.1:c.567A>C	NP_001269474.1:p.Leu189=
NM_001282548.1:c.510A>C	NP_001269477.1:p.Leu170=
NM_001282549.1:c.381A>C	NP_001269478.1:p.Leu127=
NR_104212.1:n.1913A>C
NR_104215.1:n.1856A>C
NR_104216.1:n.1112A>C
XM_011511567.1:c.1866A>C	XP_011509869.1:p.Leu622=
XM_017004613.1:c.2019A>C	XP_016860102.1:p.Leu673=
XR_002959322.1:n.2110A>C
NM_000465.4:c.1920A>C MANE Select	NP_000456.2:p.Leu640=
NM_001282543.2:c.1863A>C	NP_001269472.1:p.Leu621=
NM_001282545.2:c.567A>C	NP_001269474.1:p.Leu189=
NM_001282548.2:c.510A>C	NP_001269477.1:p.Leu170=
NM_001282549.2:c.381A>C	NP_001269478.1:p.Leu127=
NR_104212.2:n.1885A>C
NR_104215.2:n.1828A>C
NR_104216.2:n.1084A>C