Canonical Allele Identifier: CA287539

Gene: BARD1

Linked Data

• ClinVar Variation Id: 127735
• ClinVar RCV Id: RCV000115631 ; RCV000212144 ; RCV000197696 ; RCV000415317 ; RCV000588281 ; RCV001357958 ; RCV003492480
• dbSNP Id: rs142155101
• ExAC: 2:215593452 C / T
• gnomAD v2: 2-215593452-C-T
• gnomAD v3: 2-214728728-C-T
• gnomAD v4: 2-214728728-C-T
• MyVariant Identifiers: chr2:g.215593452C>T (hg19) ; chr2:g.214728728C>T (hg38)
• PubMed: PMID:9425226 ; PMID:9798686 ; PMID:11807980 ; PMID:16061562 ; PMID:16633366 ; PMID:17550235 ; PMID:17848578 ; PMID:17972171 ; PMID:18089818 ; PMID:20077502 ; PMID:20451671 ; PMID:22006311 ; PMID:23056176 ; PMID:25288723 ; PMID:25980754 ; PMID:26206375 ; PMID:26315354 ; PMID:26350354 ; PMID:26517685 ; PMID:26738429 ; PMID:26787654 ; PMID:26898890 ; PMID:26976419 ; PMID:27153395

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728728C>T , CM000664.2:g.214728728C>T	GRCh38
NC_000002.11:g.215593452C>T , CM000664.1:g.215593452C>T	GRCh37
NC_000002.10:g.215301697C>T	NCBI36
NG_012047.2:g.85977G>A
NG_012047.3:g.85984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2282G>A MANE Select	ENSP00000260947.4:p.Ser761Asn
ENST00000421162.2:c.929G>A	ENSP00000392245.2:p.Ser310Asn
ENST00000613192.2:c.*345G>A	ENSP00000483275.2:n.*345G>A
ENST00000613374.5:c.872G>A	ENSP00000484464.1:p.Ser291Asn
ENST00000613706.5:c.1874G>A	ENSP00000484976.2:p.Ser625Asn
ENST00000617164.5:c.2225G>A	ENSP00000480470.1:p.Ser742Asn
ENST00000619009.5:c.743G>A	ENSP00000482293.1:p.Ser248Asn
ENST00000650978.1:c.3657G>A
ENST00000260947.8:c.2282G>A	ENSP00000260947.4:p.Ser761Asn
ENST00000432456.5:c.425G>A
ENST00000455743.5:c.*1902G>A	ENSP00000412186.1:n.*1902G>A
ENST00000471590.5:n.617G>A
ENST00000613192.1:c.452G>A	ENSP00000483275.1:p.Ser151Asn
ENST00000613374.4:c.872G>A	ENSP00000484464.1:p.Ser291Asn
ENST00000613706.4:c.929G>A	ENSP00000484976.1:p.Ser310Asn
ENST00000617164.4:c.2225G>A	ENSP00000480470.1:p.Ser742Asn
ENST00000619009.4:c.743G>A	ENSP00000482293.1:p.Ser248Asn
ENST00000620057.4:c.*948G>A	ENSP00000481988.1:n.*948G>A
NM_000465.3:c.2282G>A	NP_000456.2:p.Ser761Asn
NM_001282543.1:c.2225G>A	NP_001269472.1:p.Ser742Asn
NM_001282545.1:c.929G>A	NP_001269474.1:p.Ser310Asn
NM_001282548.1:c.872G>A	NP_001269477.1:p.Ser291Asn
NM_001282549.1:c.743G>A	NP_001269478.1:p.Ser248Asn
NR_104212.1:n.2275G>A
NR_104215.1:n.2218G>A
NR_104216.1:n.1474G>A
XM_011511567.1:c.2228G>A	XP_011509869.1:p.Ser743Asn
XM_017004613.1:c.2381G>A	XP_016860102.1:p.Ser794Asn
XR_002959322.1:n.2648G>A
NM_000465.4:c.2282G>A MANE Select	NP_000456.2:p.Ser761Asn
NM_001282543.2:c.2225G>A	NP_001269472.1:p.Ser742Asn
NM_001282545.2:c.929G>A	NP_001269474.1:p.Ser310Asn
NM_001282548.2:c.872G>A	NP_001269477.1:p.Ser291Asn
NM_001282549.2:c.743G>A	NP_001269478.1:p.Ser248Asn
NR_104212.2:n.2247G>A
NR_104215.2:n.2190G>A
NR_104216.2:n.1446G>A