Canonical Allele Identifier: CA163942

Gene: BARD1

Linked Data

• ClinVar Variation Id: 140927
• ClinVar RCV Id: RCV000129194 ; RCV000474004 ; RCV000588367
• dbSNP Id: rs587781376
• ExAC: 2:215595221 A / G
• gnomAD v2: 2-215595221-A-G
• gnomAD v3: 2-214730497-A-G
• gnomAD v4: 2-214730497-A-G
• MyVariant Identifiers: chr2:g.215595221A>G (hg19) ; chr2:g.214730497A>G (hg38)
• PubMed: PMID:26534844

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730497A>G , CM000664.2:g.214730497A>G	GRCh38
NC_000002.11:g.215595221A>G , CM000664.1:g.215595221A>G	GRCh37
NC_000002.10:g.215303466A>G	NCBI36
NG_012047.2:g.84208T>C
NG_012047.3:g.84215T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1915T>C MANE Select	ENSP00000260947.4:p.Cys639Arg
ENST00000421162.2:c.562T>C	ENSP00000392245.2:p.Cys188Arg
ENST00000613192.2:c.170T>C	ENSP00000483275.2:p.Met57Thr
ENST00000613374.5:c.505T>C	ENSP00000484464.1:p.Cys169Arg
ENST00000613706.5:c.1507T>C	ENSP00000484976.2:p.Cys503Arg
ENST00000617164.5:c.1858T>C	ENSP00000480470.1:p.Cys620Arg
ENST00000619009.5:c.376T>C	ENSP00000482293.1:p.Cys126Arg
ENST00000650978.1:c.3290T>C
ENST00000260947.8:c.1915T>C	ENSP00000260947.4:p.Cys639Arg
ENST00000421162.1:c.562T>C	ENSP00000392245.1:p.Cys188Arg
ENST00000432456.5:c.12T>C
ENST00000455743.5:c.*1535T>C	ENSP00000412186.1:n.*1535T>C
ENST00000471590.5:n.250T>C
ENST00000613192.1:c.85T>C	ENSP00000483275.1:p.Cys29Arg
ENST00000613374.4:c.505T>C	ENSP00000484464.1:p.Cys169Arg
ENST00000613706.4:c.562T>C	ENSP00000484976.1:p.Cys188Arg
ENST00000617164.4:c.1858T>C	ENSP00000480470.1:p.Cys620Arg
ENST00000619009.4:c.376T>C	ENSP00000482293.1:p.Cys126Arg
ENST00000620057.4:c.*581T>C	ENSP00000481988.1:n.*581T>C
NM_000465.3:c.1915T>C	NP_000456.2:p.Cys639Arg
NM_001282543.1:c.1858T>C	NP_001269472.1:p.Cys620Arg
NM_001282545.1:c.562T>C	NP_001269474.1:p.Cys188Arg
NM_001282548.1:c.505T>C	NP_001269477.1:p.Cys169Arg
NM_001282549.1:c.376T>C	NP_001269478.1:p.Cys126Arg
NR_104212.1:n.1908T>C
NR_104215.1:n.1851T>C
NR_104216.1:n.1107T>C
XM_011511567.1:c.1861T>C	XP_011509869.1:p.Cys621Arg
XM_017004613.1:c.2014T>C	XP_016860102.1:p.Cys672Arg
XR_002959322.1:n.2105T>C
NM_000465.4:c.1915T>C MANE Select	NP_000456.2:p.Cys639Arg
NM_001282543.2:c.1858T>C	NP_001269472.1:p.Cys620Arg
NM_001282545.2:c.562T>C	NP_001269474.1:p.Cys188Arg
NM_001282548.2:c.505T>C	NP_001269477.1:p.Cys169Arg
NM_001282549.2:c.376T>C	NP_001269478.1:p.Cys126Arg
NR_104212.2:n.1880T>C
NR_104215.2:n.1823T>C
NR_104216.2:n.1079T>C