Canonical Allele Identifier: CA188703

Gene: BARD1

Linked Data

• ClinVar Variation Id: 184356
• ClinVar RCV Id: RCV000163593 ; RCV000419873 ; RCV000987011 ; RCV003895106
• dbSNP Id: rs199590147
• gnomAD v2: 2-215609876-A-G
• gnomAD v3: 2-214745152-A-G
• gnomAD v4: 2-214745152-A-G
• MyVariant Identifiers: chr2:g.215609876A>G (hg19) ; chr2:g.214745152A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745152A>G , CM000664.2:g.214745152A>G	GRCh38
NC_000002.11:g.215609876A>G , CM000664.1:g.215609876A>G	GRCh37
NC_000002.10:g.215318121A>G	NCBI36
NG_012047.2:g.69553T>C
NG_012047.3:g.69560T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1818T>C MANE Select	ENSP00000260947.4:p.His606=
ENST00000421162.2:c.465T>C	ENSP00000392245.2:p.His155=
ENST00000613192.2:c.159-14644T>C	ENSP00000483275.2:n.159-14644T>C
ENST00000613374.5:c.408T>C	ENSP00000484464.1:p.His136=
ENST00000613706.5:c.1410T>C	ENSP00000484976.2:p.His470=
ENST00000617164.5:c.1761T>C	ENSP00000480470.1:p.His587=
ENST00000619009.5:c.365-14644T>C	ENSP00000482293.1:n.365-14644T>C
ENST00000650978.1:c.3193T>C
ENST00000260947.8:c.1818T>C	ENSP00000260947.4:p.His606=
ENST00000421162.1:c.465T>C	ENSP00000392245.1:p.His155=
ENST00000455743.5:c.*1438T>C	ENSP00000412186.1:n.*1438T>C
ENST00000613192.1:c.74-14644T>C	ENSP00000483275.1:n.74-14644T>C
ENST00000613374.4:c.408T>C	ENSP00000484464.1:p.His136=
ENST00000613706.4:c.465T>C	ENSP00000484976.1:p.His155=
ENST00000617164.4:c.1761T>C	ENSP00000480470.1:p.His587=
ENST00000619009.4:c.365-14644T>C	ENSP00000482293.1:n.365-14644T>C
ENST00000620057.4:c.*484T>C	ENSP00000481988.1:n.*484T>C
NM_000465.3:c.1818T>C	NP_000456.2:p.His606=
NM_001282543.1:c.1761T>C	NP_001269472.1:p.His587=
NM_001282545.1:c.465T>C	NP_001269474.1:p.His155=
NM_001282548.1:c.408T>C	NP_001269477.1:p.His136=
NM_001282549.1:c.365-14644T>C	NP_001269478.1:n.365-14644T>C
NR_104212.1:n.1811T>C
NR_104215.1:n.1754T>C
NR_104216.1:n.1010T>C
XM_011511567.1:c.1764T>C	XP_011509869.1:p.His588=
XM_011511568.1:c.1818T>C	XP_011509870.1:p.His606=
XM_017004613.1:c.1917T>C	XP_016860102.1:p.His639=
XM_017004614.1:c.1917T>C	XP_016860103.1:p.His639=
XR_002959322.1:n.2008T>C
NM_000465.4:c.1818T>C MANE Select	NP_000456.2:p.His606=
NM_001282543.2:c.1761T>C	NP_001269472.1:p.His587=
NM_001282545.2:c.465T>C	NP_001269474.1:p.His155=
NM_001282548.2:c.408T>C	NP_001269477.1:p.His136=
NM_001282549.2:c.365-14644T>C	NP_001269478.1:n.365-14644T>C
NR_104212.2:n.1783T>C
NR_104215.2:n.1726T>C
NR_104216.2:n.982T>C