Canonical Allele Identifier: CA298482

Gene: BARD1

Linked Data

• ClinVar Variation Id: 182055
• ClinVar RCV Id: RCV000220702 ; RCV000586005 ; RCV000800753
• dbSNP Id: rs34677017
• gnomAD v3: 2-214728762-C-T
• gnomAD v4: 2-214728762-C-T
• MyVariant Identifiers: chr2:g.215593486C>T (hg19) ; chr2:g.214728762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728762C>T , CM000664.2:g.214728762C>T	GRCh38
NC_000002.11:g.215593486C>T , CM000664.1:g.215593486C>T	GRCh37
NC_000002.10:g.215301731C>T	NCBI36
NG_012047.2:g.85943G>A
NG_012047.3:g.85950G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2248G>A MANE Select	ENSP00000260947.4:p.Val750Ile
ENST00000421162.2:c.895G>A	ENSP00000392245.2:p.Val299Ile
ENST00000613192.2:c.*311G>A	ENSP00000483275.2:n.*311G>A
ENST00000613374.5:c.838G>A	ENSP00000484464.1:p.Val280Ile
ENST00000613706.5:c.1840G>A	ENSP00000484976.2:p.Val614Ile
ENST00000617164.5:c.2191G>A	ENSP00000480470.1:p.Val731Ile
ENST00000619009.5:c.709G>A	ENSP00000482293.1:p.Val237Ile
ENST00000650978.1:c.3623G>A
ENST00000260947.8:c.2248G>A	ENSP00000260947.4:p.Val750Ile
ENST00000432456.5:c.391G>A
ENST00000455743.5:c.*1868G>A	ENSP00000412186.1:n.*1868G>A
ENST00000471590.5:n.583G>A
ENST00000613192.1:c.418G>A	ENSP00000483275.1:p.Val140Ile
ENST00000613374.4:c.838G>A	ENSP00000484464.1:p.Val280Ile
ENST00000613706.4:c.895G>A	ENSP00000484976.1:p.Val299Ile
ENST00000617164.4:c.2191G>A	ENSP00000480470.1:p.Val731Ile
ENST00000619009.4:c.709G>A	ENSP00000482293.1:p.Val237Ile
ENST00000620057.4:c.*914G>A	ENSP00000481988.1:n.*914G>A
NM_000465.3:c.2248G>A	NP_000456.2:p.Val750Ile
NM_001282543.1:c.2191G>A	NP_001269472.1:p.Val731Ile
NM_001282545.1:c.895G>A	NP_001269474.1:p.Val299Ile
NM_001282548.1:c.838G>A	NP_001269477.1:p.Val280Ile
NM_001282549.1:c.709G>A	NP_001269478.1:p.Val237Ile
NR_104212.1:n.2241G>A
NR_104215.1:n.2184G>A
NR_104216.1:n.1440G>A
XM_011511567.1:c.2194G>A	XP_011509869.1:p.Val732Ile
XM_017004613.1:c.2347G>A	XP_016860102.1:p.Val783Ile
XR_002959322.1:n.2614G>A
NM_000465.4:c.2248G>A MANE Select	NP_000456.2:p.Val750Ile
NM_001282543.2:c.2191G>A	NP_001269472.1:p.Val731Ile
NM_001282545.2:c.895G>A	NP_001269474.1:p.Val299Ile
NM_001282548.2:c.838G>A	NP_001269477.1:p.Val280Ile
NM_001282549.2:c.709G>A	NP_001269478.1:p.Val237Ile
NR_104212.2:n.2213G>A
NR_104215.2:n.2156G>A
NR_104216.2:n.1412G>A