Canonical Allele Identifier: CA2662972080

Gene: BARD1

Linked Data

• dbSNP Id: rs2106135798
• gnomAD v4: 2-214792469-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792469A>G , CM000664.2:g.214792469A>G	GRCh38
NC_000002.11:g.215657193A>G , CM000664.1:g.215657193A>G	GRCh37
NC_000002.10:g.215365438A>G	NCBI36
NG_012047.2:g.22236T>C
NG_012047.3:g.22243T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.216-24T>C MANE Select	ENSP00000260947.4:n.216-24T>C
ENST00000421162.2:c.215+4592T>C	ENSP00000392245.2:n.215+4592T>C
ENST00000613192.2:c.158+16943T>C	ENSP00000483275.2:n.158+16943T>C
ENST00000613374.5:c.158+16943T>C	ENSP00000484464.1:n.158+16943T>C
ENST00000613706.5:c.216-24T>C	ENSP00000484976.2:n.216-24T>C
ENST00000617164.5:c.159-24T>C	ENSP00000480470.1:n.159-24T>C
ENST00000619009.5:c.216-24T>C	ENSP00000482293.1:n.216-24T>C
ENST00000650978.1:c.58-24T>C
ENST00000260947.8:c.216-24T>C	ENSP00000260947.4:n.216-24T>C
ENST00000421162.1:c.215+4592T>C	ENSP00000392245.1:n.215+4592T>C
ENST00000455743.5:c.215+4592T>C	ENSP00000412186.1:n.215+4592T>C
ENST00000471787.1:n.260-10960T>C
ENST00000613192.1:c.73+16943T>C	ENSP00000483275.1:n.73+16943T>C
ENST00000613374.4:c.158+16943T>C	ENSP00000484464.1:n.158+16943T>C
ENST00000613706.4:c.215+4592T>C	ENSP00000484976.1:n.215+4592T>C
ENST00000617164.4:c.159-24T>C	ENSP00000480470.1:n.159-24T>C
ENST00000619009.4:c.216-24T>C	ENSP00000482293.1:n.216-24T>C
ENST00000620057.4:c.216-24T>C	ENSP00000481988.1:n.216-24T>C
NM_000465.3:c.216-24T>C	NP_000456.2:n.216-24T>C
NM_001282543.1:c.159-24T>C	NP_001269472.1:n.159-24T>C
NM_001282545.1:c.215+4592T>C	NP_001269474.1:n.215+4592T>C
NM_001282548.1:c.158+16943T>C	NP_001269477.1:n.158+16943T>C
NM_001282549.1:c.216-24T>C	NP_001269478.1:n.216-24T>C
NR_104212.1:n.357+4592T>C
NR_104215.1:n.301-10960T>C
NR_104216.1:n.358-24T>C
XM_011511567.1:c.162-24T>C	XP_011509869.1:n.162-24T>C
XM_011511568.1:c.216-24T>C	XP_011509870.1:n.216-24T>C
XM_017004613.1:c.315-24T>C	XP_016860102.1:n.315-24T>C
XM_017004614.1:c.315-24T>C	XP_016860103.1:n.315-24T>C
XR_002959322.1:n.406-24T>C
NM_000465.4:c.216-24T>C MANE Select	NP_000456.2:n.216-24T>C
NM_001282543.2:c.159-24T>C	NP_001269472.1:n.159-24T>C
NM_001282545.2:c.215+4592T>C	NP_001269474.1:n.215+4592T>C
NM_001282548.2:c.158+16943T>C	NP_001269477.1:n.158+16943T>C
NM_001282549.2:c.216-24T>C	NP_001269478.1:n.216-24T>C
NR_104212.2:n.329+4592T>C
NR_104215.2:n.273-10960T>C
NR_104216.2:n.330-24T>C