Canonical Allele Identifier: CA350451290

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595217A>G (hg19) ; chr2:g.214730493A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730493A>G , CM000664.2:g.214730493A>G	GRCh38
NC_000002.11:g.215595217A>G , CM000664.1:g.215595217A>G	GRCh37
NC_000002.10:g.215303462A>G	NCBI36
NG_012047.2:g.84212T>C
NG_012047.3:g.84219T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1919T>C MANE Select	ENSP00000260947.4:p.Leu640Pro
ENST00000421162.2:c.566T>C	ENSP00000392245.2:p.Leu189Pro
ENST00000613192.2:c.174T>C	ENSP00000483275.2:p.Ser58=
ENST00000613374.5:c.509T>C	ENSP00000484464.1:p.Leu170Pro
ENST00000613706.5:c.1511T>C	ENSP00000484976.2:p.Leu504Pro
ENST00000617164.5:c.1862T>C	ENSP00000480470.1:p.Leu621Pro
ENST00000619009.5:c.380T>C	ENSP00000482293.1:p.Leu127Pro
ENST00000650978.1:c.3294T>C
ENST00000260947.8:c.1919T>C	ENSP00000260947.4:p.Leu640Pro
ENST00000421162.1:c.566T>C	ENSP00000392245.1:p.Leu189Pro
ENST00000432456.5:c.16T>C
ENST00000455743.5:c.*1539T>C	ENSP00000412186.1:n.*1539T>C
ENST00000471590.5:n.254T>C
ENST00000613192.1:c.89T>C	ENSP00000483275.1:p.Leu30Pro
ENST00000613374.4:c.509T>C	ENSP00000484464.1:p.Leu170Pro
ENST00000613706.4:c.566T>C	ENSP00000484976.1:p.Leu189Pro
ENST00000617164.4:c.1862T>C	ENSP00000480470.1:p.Leu621Pro
ENST00000619009.4:c.380T>C	ENSP00000482293.1:p.Leu127Pro
ENST00000620057.4:c.*585T>C	ENSP00000481988.1:n.*585T>C
NM_000465.3:c.1919T>C	NP_000456.2:p.Leu640Pro
NM_001282543.1:c.1862T>C	NP_001269472.1:p.Leu621Pro
NM_001282545.1:c.566T>C	NP_001269474.1:p.Leu189Pro
NM_001282548.1:c.509T>C	NP_001269477.1:p.Leu170Pro
NM_001282549.1:c.380T>C	NP_001269478.1:p.Leu127Pro
NR_104212.1:n.1912T>C
NR_104215.1:n.1855T>C
NR_104216.1:n.1111T>C
XM_011511567.1:c.1865T>C	XP_011509869.1:p.Leu622Pro
XM_017004613.1:c.2018T>C	XP_016860102.1:p.Leu673Pro
XR_002959322.1:n.2109T>C
NM_000465.4:c.1919T>C MANE Select	NP_000456.2:p.Leu640Pro
NM_001282543.2:c.1862T>C	NP_001269472.1:p.Leu621Pro
NM_001282545.2:c.566T>C	NP_001269474.1:p.Leu189Pro
NM_001282548.2:c.509T>C	NP_001269477.1:p.Leu170Pro
NM_001282549.2:c.380T>C	NP_001269478.1:p.Leu127Pro
NR_104212.2:n.1884T>C
NR_104215.2:n.1827T>C
NR_104216.2:n.1083T>C