Canonical Allele Identifier: CA333157

Gene: BARD1

Linked Data

• ClinVar Variation Id: 136501
• ClinVar RCV Id: RCV000128965 ; RCV000205303 ; RCV000212143 ; RCV001357750 ; RCV002225403 ; RCV003456367
• dbSNP Id: rs61754118
• ExAC: 2:215593522 T / C
• gnomAD v2: 2-215593522-T-C
• gnomAD v3: 2-214728798-T-C
• gnomAD v4: 2-214728798-T-C
• MyVariant Identifiers: chr2:g.215593522T>C (hg19) ; chr2:g.214728798T>C (hg38)
• PubMed: PMID:16061562 ; PMID:19197335 ; PMID:20077502 ; PMID:26307947 ; PMID:26787654

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728798T>C , CM000664.2:g.214728798T>C	GRCh38
NC_000002.11:g.215593522T>C , CM000664.1:g.215593522T>C	GRCh37
NC_000002.10:g.215301767T>C	NCBI36
NG_012047.2:g.85907A>G
NG_012047.3:g.85914A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2212A>G MANE Select	ENSP00000260947.4:p.Ile738Val
ENST00000421162.2:c.859A>G	ENSP00000392245.2:p.Ile287Val
ENST00000613192.2:c.*275A>G	ENSP00000483275.2:n.*275A>G
ENST00000613374.5:c.802A>G	ENSP00000484464.1:p.Ile268Val
ENST00000613706.5:c.1804A>G	ENSP00000484976.2:p.Ile602Val
ENST00000617164.5:c.2155A>G	ENSP00000480470.1:p.Ile719Val
ENST00000619009.5:c.673A>G	ENSP00000482293.1:p.Ile225Val
ENST00000650978.1:c.3587A>G
ENST00000260947.8:c.2212A>G	ENSP00000260947.4:p.Ile738Val
ENST00000432456.5:c.355A>G
ENST00000455743.5:c.*1832A>G	ENSP00000412186.1:n.*1832A>G
ENST00000471590.5:n.547A>G
ENST00000613192.1:c.382A>G	ENSP00000483275.1:p.Ile128Val
ENST00000613374.4:c.802A>G	ENSP00000484464.1:p.Ile268Val
ENST00000613706.4:c.859A>G	ENSP00000484976.1:p.Ile287Val
ENST00000617164.4:c.2155A>G	ENSP00000480470.1:p.Ile719Val
ENST00000619009.4:c.673A>G	ENSP00000482293.1:p.Ile225Val
ENST00000620057.4:c.*878A>G	ENSP00000481988.1:n.*878A>G
NM_000465.3:c.2212A>G	NP_000456.2:p.Ile738Val
NM_001282543.1:c.2155A>G	NP_001269472.1:p.Ile719Val
NM_001282545.1:c.859A>G	NP_001269474.1:p.Ile287Val
NM_001282548.1:c.802A>G	NP_001269477.1:p.Ile268Val
NM_001282549.1:c.673A>G	NP_001269478.1:p.Ile225Val
NR_104212.1:n.2205A>G
NR_104215.1:n.2148A>G
NR_104216.1:n.1404A>G
XM_011511567.1:c.2158A>G	XP_011509869.1:p.Ile720Val
XM_017004613.1:c.2311A>G	XP_016860102.1:p.Ile771Val
XR_002959322.1:n.2578A>G
NM_000465.4:c.2212A>G MANE Select	NP_000456.2:p.Ile738Val
NM_001282543.2:c.2155A>G	NP_001269472.1:p.Ile719Val
NM_001282545.2:c.859A>G	NP_001269474.1:p.Ile287Val
NM_001282548.2:c.802A>G	NP_001269477.1:p.Ile268Val
NM_001282549.2:c.673A>G	NP_001269478.1:p.Ile225Val
NR_104212.2:n.2177A>G
NR_104215.2:n.2120A>G
NR_104216.2:n.1376A>G