Canonical Allele Identifier: CA2090426

Gene: BARD1

Linked Data

• ClinVar Variation Id: 479118
• ClinVar RCV Id: RCV000574944 ; RCV001238638
• dbSNP Id: rs758749603
• ExAC: 2:215646178 C / A
• gnomAD v2: 2-215646178-C-A
• gnomAD v3: 2-214781454-C-A
• gnomAD v4: 2-214781454-C-A
• COSMIC: COSM256387 ; COSM1591866
• MyVariant Identifiers: chr2:g.215646178C>A (hg19) ; chr2:g.214781454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781454C>A , CM000664.2:g.214781454C>A	GRCh38
NC_000002.11:g.215646178C>A , CM000664.1:g.215646178C>A	GRCh37
NC_000002.10:g.215354423C>A	NCBI36
NG_012047.2:g.33251G>T
NG_012047.3:g.33258G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.420G>T MANE Select	ENSP00000260947.4:p.Lys140Asn
ENST00000421162.2:c.215+15607G>T	ENSP00000392245.2:n.215+15607G>T
ENST00000613192.2:c.158+27958G>T	ENSP00000483275.2:n.158+27958G>T
ENST00000613374.5:c.158+27958G>T	ENSP00000484464.1:n.158+27958G>T
ENST00000613706.5:c.420G>T	ENSP00000484976.2:p.Lys140Asn
ENST00000617164.5:c.363G>T	ENSP00000480470.1:p.Lys121Asn
ENST00000619009.5:c.364+10843G>T	ENSP00000482293.1:n.364+10843G>T
ENST00000650978.1:c.262G>T
ENST00000260947.8:c.420G>T	ENSP00000260947.4:p.Lys140Asn
ENST00000421162.1:c.215+15607G>T	ENSP00000392245.1:n.215+15607G>T
ENST00000455743.5:c.*40G>T	ENSP00000412186.1:n.*40G>T
ENST00000471787.1:n.315G>T
ENST00000613192.1:c.73+27958G>T	ENSP00000483275.1:n.73+27958G>T
ENST00000613374.4:c.158+27958G>T	ENSP00000484464.1:n.158+27958G>T
ENST00000613706.4:c.215+15607G>T	ENSP00000484976.1:n.215+15607G>T
ENST00000617164.4:c.363G>T	ENSP00000480470.1:p.Lys121Asn
ENST00000619009.4:c.364+10843G>T	ENSP00000482293.1:n.364+10843G>T
ENST00000620057.4:c.364+10843G>T	ENSP00000481988.1:n.364+10843G>T
NM_000465.3:c.420G>T	NP_000456.2:p.Lys140Asn
NM_001282543.1:c.363G>T	NP_001269472.1:p.Lys121Asn
NM_001282545.1:c.215+15607G>T	NP_001269474.1:n.215+15607G>T
NM_001282548.1:c.158+27958G>T	NP_001269477.1:n.158+27958G>T
NM_001282549.1:c.364+10843G>T	NP_001269478.1:n.364+10843G>T
NR_104212.1:n.413G>T
NR_104215.1:n.356G>T
NR_104216.1:n.506+10843G>T
XM_011511567.1:c.366G>T	XP_011509869.1:p.Lys122Asn
XM_011511568.1:c.420G>T	XP_011509870.1:p.Lys140Asn
XM_017004613.1:c.519G>T	XP_016860102.1:p.Lys173Asn
XM_017004614.1:c.519G>T	XP_016860103.1:p.Lys173Asn
XR_002959322.1:n.610G>T
NM_000465.4:c.420G>T MANE Select	NP_000456.2:p.Lys140Asn
NM_001282543.2:c.363G>T	NP_001269472.1:p.Lys121Asn
NM_001282545.2:c.215+15607G>T	NP_001269474.1:n.215+15607G>T
NM_001282548.2:c.158+27958G>T	NP_001269477.1:n.158+27958G>T
NM_001282549.2:c.364+10843G>T	NP_001269478.1:n.364+10843G>T
NR_104212.2:n.385G>T
NR_104215.2:n.328G>T
NR_104216.2:n.478+10843G>T