Canonical Allele Identifier: CA350451297

Gene: BARD1

Linked Data

• ClinVar Variation Id: 490951
• ClinVar RCV Id: RCV000583842 ; RCV001219941
• dbSNP Id: rs1345080663
• gnomAD v3: 2-214730495-A-C
• gnomAD v4: 2-214730495-A-C
• MyVariant Identifiers: chr2:g.215595219A>C (hg19) ; chr2:g.214730495A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730495A>C , CM000664.2:g.214730495A>C	GRCh38
NC_000002.11:g.215595219A>C , CM000664.1:g.215595219A>C	GRCh37
NC_000002.10:g.215303464A>C	NCBI36
NG_012047.2:g.84210T>G
NG_012047.3:g.84217T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1917T>G MANE Select	ENSP00000260947.4:p.Cys639Trp
ENST00000421162.2:c.564T>G	ENSP00000392245.2:p.Cys188Trp
ENST00000613192.2:c.172T>G	ENSP00000483275.2:p.Ser58Ala
ENST00000613374.5:c.507T>G	ENSP00000484464.1:p.Cys169Trp
ENST00000613706.5:c.1509T>G	ENSP00000484976.2:p.Cys503Trp
ENST00000617164.5:c.1860T>G	ENSP00000480470.1:p.Cys620Trp
ENST00000619009.5:c.378T>G	ENSP00000482293.1:p.Cys126Trp
ENST00000650978.1:c.3292T>G
ENST00000260947.8:c.1917T>G	ENSP00000260947.4:p.Cys639Trp
ENST00000421162.1:c.564T>G	ENSP00000392245.1:p.Cys188Trp
ENST00000432456.5:c.14T>G
ENST00000455743.5:c.*1537T>G	ENSP00000412186.1:n.*1537T>G
ENST00000471590.5:n.252T>G
ENST00000613192.1:c.87T>G	ENSP00000483275.1:p.Cys29Trp
ENST00000613374.4:c.507T>G	ENSP00000484464.1:p.Cys169Trp
ENST00000613706.4:c.564T>G	ENSP00000484976.1:p.Cys188Trp
ENST00000617164.4:c.1860T>G	ENSP00000480470.1:p.Cys620Trp
ENST00000619009.4:c.378T>G	ENSP00000482293.1:p.Cys126Trp
ENST00000620057.4:c.*583T>G	ENSP00000481988.1:n.*583T>G
NM_000465.3:c.1917T>G	NP_000456.2:p.Cys639Trp
NM_001282543.1:c.1860T>G	NP_001269472.1:p.Cys620Trp
NM_001282545.1:c.564T>G	NP_001269474.1:p.Cys188Trp
NM_001282548.1:c.507T>G	NP_001269477.1:p.Cys169Trp
NM_001282549.1:c.378T>G	NP_001269478.1:p.Cys126Trp
NR_104212.1:n.1910T>G
NR_104215.1:n.1853T>G
NR_104216.1:n.1109T>G
XM_011511567.1:c.1863T>G	XP_011509869.1:p.Cys621Trp
XM_017004613.1:c.2016T>G	XP_016860102.1:p.Cys672Trp
XR_002959322.1:n.2107T>G
NM_000465.4:c.1917T>G MANE Select	NP_000456.2:p.Cys639Trp
NM_001282543.2:c.1860T>G	NP_001269472.1:p.Cys620Trp
NM_001282545.2:c.564T>G	NP_001269474.1:p.Cys188Trp
NM_001282548.2:c.507T>G	NP_001269477.1:p.Cys169Trp
NM_001282549.2:c.378T>G	NP_001269478.1:p.Cys126Trp
NR_104212.2:n.1882T>G
NR_104215.2:n.1825T>G
NR_104216.2:n.1081T>G