Canonical Allele Identifier: CA350450017

Gene: BARD1

Linked Data

• ClinVar Variation Id: 820952
• ClinVar RCV Id: RCV001014907 ; RCV001221656 ; RCV001844259
• dbSNP Id: rs879253880
• gnomAD v3: 2-214728768-C-A
• gnomAD v4: 2-214728768-C-A
• MyVariant Identifiers: chr2:g.215593492C>A (hg19) ; chr2:g.214728768C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728768C>A , CM000664.2:g.214728768C>A	GRCh38
NC_000002.11:g.215593492C>A , CM000664.1:g.215593492C>A	GRCh37
NC_000002.10:g.215301737C>A	NCBI36
NG_012047.2:g.85937G>T
NG_012047.3:g.85944G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2242G>T MANE Select	ENSP00000260947.4:p.Glu748Ter
ENST00000421162.2:c.889G>T	ENSP00000392245.2:p.Glu297Ter
ENST00000613192.2:c.*305G>T	ENSP00000483275.2:n.*305G>T
ENST00000613374.5:c.832G>T	ENSP00000484464.1:p.Glu278Ter
ENST00000613706.5:c.1834G>T	ENSP00000484976.2:p.Glu612Ter
ENST00000617164.5:c.2185G>T	ENSP00000480470.1:p.Glu729Ter
ENST00000619009.5:c.703G>T	ENSP00000482293.1:p.Glu235Ter
ENST00000650978.1:c.3617G>T
ENST00000260947.8:c.2242G>T	ENSP00000260947.4:p.Glu748Ter
ENST00000432456.5:c.385G>T
ENST00000455743.5:c.*1862G>T	ENSP00000412186.1:n.*1862G>T
ENST00000471590.5:n.577G>T
ENST00000613192.1:c.412G>T	ENSP00000483275.1:p.Glu138Ter
ENST00000613374.4:c.832G>T	ENSP00000484464.1:p.Glu278Ter
ENST00000613706.4:c.889G>T	ENSP00000484976.1:p.Glu297Ter
ENST00000617164.4:c.2185G>T	ENSP00000480470.1:p.Glu729Ter
ENST00000619009.4:c.703G>T	ENSP00000482293.1:p.Glu235Ter
ENST00000620057.4:c.*908G>T	ENSP00000481988.1:n.*908G>T
NM_000465.3:c.2242G>T	NP_000456.2:p.Glu748Ter
NM_001282543.1:c.2185G>T	NP_001269472.1:p.Glu729Ter
NM_001282545.1:c.889G>T	NP_001269474.1:p.Glu297Ter
NM_001282548.1:c.832G>T	NP_001269477.1:p.Glu278Ter
NM_001282549.1:c.703G>T	NP_001269478.1:p.Glu235Ter
NR_104212.1:n.2235G>T
NR_104215.1:n.2178G>T
NR_104216.1:n.1434G>T
XM_011511567.1:c.2188G>T	XP_011509869.1:p.Glu730Ter
XM_017004613.1:c.2341G>T	XP_016860102.1:p.Glu781Ter
XR_002959322.1:n.2608G>T
NM_000465.4:c.2242G>T MANE Select	NP_000456.2:p.Glu748Ter
NM_001282543.2:c.2185G>T	NP_001269472.1:p.Glu729Ter
NM_001282545.2:c.889G>T	NP_001269474.1:p.Glu297Ter
NM_001282548.2:c.832G>T	NP_001269477.1:p.Glu278Ter
NM_001282549.2:c.703G>T	NP_001269478.1:p.Glu235Ter
NR_104212.2:n.2207G>T
NR_104215.2:n.2150G>T
NR_104216.2:n.1406G>T