Canonical Allele Identifier: CA350451237

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1782935
• ClinVar RCV Id: RCV002410968
• gnomAD v4: 2-214730478-C-T
• MyVariant Identifiers: chr2:g.215595202C>T (hg19) ; chr2:g.214730478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730478C>T , CM000664.2:g.214730478C>T	GRCh38
NC_000002.11:g.215595202C>T , CM000664.1:g.215595202C>T	GRCh37
NC_000002.10:g.215303447C>T	NCBI36
NG_012047.2:g.84227G>A
NG_012047.3:g.84234G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1934G>A MANE Select	ENSP00000260947.4:p.Cys645Tyr
ENST00000421162.2:c.581G>A	ENSP00000392245.2:p.Cys194Tyr
ENST00000613192.2:c.189G>A	ENSP00000483275.2:p.Met63Ile
ENST00000613374.5:c.524G>A	ENSP00000484464.1:p.Cys175Tyr
ENST00000613706.5:c.1526G>A	ENSP00000484976.2:p.Cys509Tyr
ENST00000617164.5:c.1877G>A	ENSP00000480470.1:p.Cys626Tyr
ENST00000619009.5:c.395G>A	ENSP00000482293.1:p.Cys132Tyr
ENST00000650978.1:c.3309G>A
ENST00000260947.8:c.1934G>A	ENSP00000260947.4:p.Cys645Tyr
ENST00000421162.1:c.581G>A	ENSP00000392245.1:p.Cys194Tyr
ENST00000432456.5:c.31G>A
ENST00000455743.5:c.*1554G>A	ENSP00000412186.1:n.*1554G>A
ENST00000471590.5:n.269G>A
ENST00000613192.1:c.104G>A	ENSP00000483275.1:p.Cys35Tyr
ENST00000613374.4:c.524G>A	ENSP00000484464.1:p.Cys175Tyr
ENST00000613706.4:c.581G>A	ENSP00000484976.1:p.Cys194Tyr
ENST00000617164.4:c.1877G>A	ENSP00000480470.1:p.Cys626Tyr
ENST00000619009.4:c.395G>A	ENSP00000482293.1:p.Cys132Tyr
ENST00000620057.4:c.*600G>A	ENSP00000481988.1:n.*600G>A
NM_000465.3:c.1934G>A	NP_000456.2:p.Cys645Tyr
NM_001282543.1:c.1877G>A	NP_001269472.1:p.Cys626Tyr
NM_001282545.1:c.581G>A	NP_001269474.1:p.Cys194Tyr
NM_001282548.1:c.524G>A	NP_001269477.1:p.Cys175Tyr
NM_001282549.1:c.395G>A	NP_001269478.1:p.Cys132Tyr
NR_104212.1:n.1927G>A
NR_104215.1:n.1870G>A
NR_104216.1:n.1126G>A
XM_011511567.1:c.1880G>A	XP_011509869.1:p.Cys627Tyr
XM_017004613.1:c.2033G>A	XP_016860102.1:p.Cys678Tyr
XR_002959322.1:n.2124G>A
NM_000465.4:c.1934G>A MANE Select	NP_000456.2:p.Cys645Tyr
NM_001282543.2:c.1877G>A	NP_001269472.1:p.Cys626Tyr
NM_001282545.2:c.581G>A	NP_001269474.1:p.Cys194Tyr
NM_001282548.2:c.524G>A	NP_001269477.1:p.Cys175Tyr
NM_001282549.2:c.395G>A	NP_001269478.1:p.Cys132Tyr
NR_104212.2:n.1899G>A
NR_104215.2:n.1842G>A
NR_104216.2:n.1098G>A