Canonical Allele Identifier: CA10577849

Gene: BARD1

Linked Data

• ClinVar Variation Id: 229866
• ClinVar RCV Id: RCV000220394 ; RCV002519664
• dbSNP Id: rs876658241
• gnomAD v2: 2-215657035-T-C
• gnomAD v4: 2-214792311-T-C
• MyVariant Identifiers: chr2:g.215657035T>C (hg19) ; chr2:g.214792311T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792311T>C , CM000664.2:g.214792311T>C	GRCh38
NC_000002.11:g.215657035T>C , CM000664.1:g.215657035T>C	GRCh37
NC_000002.10:g.215365280T>C	NCBI36
NG_012047.2:g.22394A>G
NG_012047.3:g.22401A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.350A>G MANE Select	ENSP00000260947.4:p.Asp117Gly
ENST00000421162.2:c.215+4750A>G	ENSP00000392245.2:n.215+4750A>G
ENST00000613192.2:c.158+17101A>G	ENSP00000483275.2:n.158+17101A>G
ENST00000613374.5:c.158+17101A>G	ENSP00000484464.1:n.158+17101A>G
ENST00000613706.5:c.350A>G	ENSP00000484976.2:p.Asp117Gly
ENST00000617164.5:c.293A>G	ENSP00000480470.1:p.Asp98Gly
ENST00000619009.5:c.350A>G	ENSP00000482293.1:p.Asp117Gly
ENST00000650978.1:c.192A>G
ENST00000260947.8:c.350A>G	ENSP00000260947.4:p.Asp117Gly
ENST00000421162.1:c.215+4750A>G	ENSP00000392245.1:n.215+4750A>G
ENST00000455743.5:c.215+4750A>G	ENSP00000412186.1:n.215+4750A>G
ENST00000471787.1:n.260-10802A>G
ENST00000613192.1:c.73+17101A>G	ENSP00000483275.1:n.73+17101A>G
ENST00000613374.4:c.158+17101A>G	ENSP00000484464.1:n.158+17101A>G
ENST00000613706.4:c.215+4750A>G	ENSP00000484976.1:n.215+4750A>G
ENST00000617164.4:c.293A>G	ENSP00000480470.1:p.Asp98Gly
ENST00000619009.4:c.350A>G	ENSP00000482293.1:p.Asp117Gly
ENST00000620057.4:c.350A>G	ENSP00000481988.1:p.Asp117Gly
NM_000465.3:c.350A>G	NP_000456.2:p.Asp117Gly
NM_001282543.1:c.293A>G	NP_001269472.1:p.Asp98Gly
NM_001282545.1:c.215+4750A>G	NP_001269474.1:n.215+4750A>G
NM_001282548.1:c.158+17101A>G	NP_001269477.1:n.158+17101A>G
NM_001282549.1:c.350A>G	NP_001269478.1:p.Asp117Gly
NR_104212.1:n.357+4750A>G
NR_104215.1:n.301-10802A>G
NR_104216.1:n.492A>G
XM_011511567.1:c.296A>G	XP_011509869.1:p.Asp99Gly
XM_011511568.1:c.350A>G	XP_011509870.1:p.Asp117Gly
XM_017004613.1:c.449A>G	XP_016860102.1:p.Asp150Gly
XM_017004614.1:c.449A>G	XP_016860103.1:p.Asp150Gly
XR_002959322.1:n.540A>G
NM_000465.4:c.350A>G MANE Select	NP_000456.2:p.Asp117Gly
NM_001282543.2:c.293A>G	NP_001269472.1:p.Asp98Gly
NM_001282545.2:c.215+4750A>G	NP_001269474.1:n.215+4750A>G
NM_001282548.2:c.158+17101A>G	NP_001269477.1:n.158+17101A>G
NM_001282549.2:c.350A>G	NP_001269478.1:p.Asp117Gly
NR_104212.2:n.329+4750A>G
NR_104215.2:n.273-10802A>G
NR_104216.2:n.464A>G