Canonical Allele Identifier: CA431139745

Gene: BARD1

Linked Data

• ClinVar Variation Id: 820315
• ClinVar RCV Id: RCV001013646 ; RCV003500623
• dbSNP Id: rs1574707330
• gnomAD v4: 2-214730504-T-C
• MyVariant Identifiers: chr2:g.215595228T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730504T>C , CM000664.2:g.214730504T>C	GRCh38
NC_000002.11:g.215595228T>C , CM000664.1:g.215595228T>C	GRCh37
NC_000002.10:g.215303473T>C	NCBI36
NG_012047.2:g.84201A>G
NG_012047.3:g.84208A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1908A>G MANE Select	ENSP00000260947.4:p.Val636=
ENST00000421162.2:c.555A>G	ENSP00000392245.2:p.Val185=
ENST00000613192.2:c.163A>G	ENSP00000483275.2:p.Lys55Glu
ENST00000613374.5:c.498A>G	ENSP00000484464.1:p.Val166=
ENST00000613706.5:c.1500A>G	ENSP00000484976.2:p.Val500=
ENST00000617164.5:c.1851A>G	ENSP00000480470.1:p.Val617=
ENST00000619009.5:c.369A>G	ENSP00000482293.1:p.Val123=
ENST00000650978.1:c.3283A>G
ENST00000260947.8:c.1908A>G	ENSP00000260947.4:p.Val636=
ENST00000421162.1:c.555A>G	ENSP00000392245.1:p.Val185=
ENST00000432456.5:c.5A>G
ENST00000455743.5:c.*1528A>G	ENSP00000412186.1:n.*1528A>G
ENST00000471590.5:n.243A>G
ENST00000613192.1:c.78A>G	ENSP00000483275.1:p.Val26=
ENST00000613374.4:c.498A>G	ENSP00000484464.1:p.Val166=
ENST00000613706.4:c.555A>G	ENSP00000484976.1:p.Val185=
ENST00000617164.4:c.1851A>G	ENSP00000480470.1:p.Val617=
ENST00000619009.4:c.369A>G	ENSP00000482293.1:p.Val123=
ENST00000620057.4:c.*574A>G	ENSP00000481988.1:n.*574A>G
NM_000465.3:c.1908A>G	NP_000456.2:p.Val636=
NM_001282543.1:c.1851A>G	NP_001269472.1:p.Val617=
NM_001282545.1:c.555A>G	NP_001269474.1:p.Val185=
NM_001282548.1:c.498A>G	NP_001269477.1:p.Val166=
NM_001282549.1:c.369A>G	NP_001269478.1:p.Val123=
NR_104212.1:n.1901A>G
NR_104215.1:n.1844A>G
NR_104216.1:n.1100A>G
XM_011511567.1:c.1854A>G	XP_011509869.1:p.Val618=
XM_017004613.1:c.2007A>G	XP_016860102.1:p.Val669=
XR_002959322.1:n.2098A>G
NM_000465.4:c.1908A>G MANE Select	NP_000456.2:p.Val636=
NM_001282543.2:c.1851A>G	NP_001269472.1:p.Val617=
NM_001282545.2:c.555A>G	NP_001269474.1:p.Val185=
NM_001282548.2:c.498A>G	NP_001269477.1:p.Val166=
NM_001282549.2:c.369A>G	NP_001269478.1:p.Val123=
NR_104212.2:n.1873A>G
NR_104215.2:n.1816A>G
NR_104216.2:n.1072A>G