Canonical Allele Identifier: CA350458199

Gene: BARD1

Linked Data

• ClinVar Variation Id: 630478
• ClinVar RCV Id: RCV000775962 ; RCV001230357
• dbSNP Id: rs1174079177
• MyVariant Identifiers: chr2:g.215646209T>C (hg19) ; chr2:g.214781485T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781485T>C , CM000664.2:g.214781485T>C	GRCh38
NC_000002.11:g.215646209T>C , CM000664.1:g.215646209T>C	GRCh37
NC_000002.10:g.215354454T>C	NCBI36
NG_012047.2:g.33220A>G
NG_012047.3:g.33227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.389A>G MANE Select	ENSP00000260947.4:p.Lys130Arg
ENST00000421162.2:c.215+15576A>G	ENSP00000392245.2:n.215+15576A>G
ENST00000613192.2:c.158+27927A>G	ENSP00000483275.2:n.158+27927A>G
ENST00000613374.5:c.158+27927A>G	ENSP00000484464.1:n.158+27927A>G
ENST00000613706.5:c.389A>G	ENSP00000484976.2:p.Lys130Arg
ENST00000617164.5:c.332A>G	ENSP00000480470.1:p.Lys111Arg
ENST00000619009.5:c.364+10812A>G	ENSP00000482293.1:n.364+10812A>G
ENST00000650978.1:c.231A>G
ENST00000260947.8:c.389A>G	ENSP00000260947.4:p.Lys130Arg
ENST00000421162.1:c.215+15576A>G	ENSP00000392245.1:n.215+15576A>G
ENST00000455743.5:c.*9A>G	ENSP00000412186.1:n.*9A>G
ENST00000471787.1:n.284A>G
ENST00000613192.1:c.73+27927A>G	ENSP00000483275.1:n.73+27927A>G
ENST00000613374.4:c.158+27927A>G	ENSP00000484464.1:n.158+27927A>G
ENST00000613706.4:c.215+15576A>G	ENSP00000484976.1:n.215+15576A>G
ENST00000617164.4:c.332A>G	ENSP00000480470.1:p.Lys111Arg
ENST00000619009.4:c.364+10812A>G	ENSP00000482293.1:n.364+10812A>G
ENST00000620057.4:c.364+10812A>G	ENSP00000481988.1:n.364+10812A>G
NM_000465.3:c.389A>G	NP_000456.2:p.Lys130Arg
NM_001282543.1:c.332A>G	NP_001269472.1:p.Lys111Arg
NM_001282545.1:c.215+15576A>G	NP_001269474.1:n.215+15576A>G
NM_001282548.1:c.158+27927A>G	NP_001269477.1:n.158+27927A>G
NM_001282549.1:c.364+10812A>G	NP_001269478.1:n.364+10812A>G
NR_104212.1:n.382A>G
NR_104215.1:n.325A>G
NR_104216.1:n.506+10812A>G
XM_011511567.1:c.335A>G	XP_011509869.1:p.Lys112Arg
XM_011511568.1:c.389A>G	XP_011509870.1:p.Lys130Arg
XM_017004613.1:c.488A>G	XP_016860102.1:p.Lys163Arg
XM_017004614.1:c.488A>G	XP_016860103.1:p.Lys163Arg
XR_002959322.1:n.579A>G
NM_000465.4:c.389A>G MANE Select	NP_000456.2:p.Lys130Arg
NM_001282543.2:c.332A>G	NP_001269472.1:p.Lys111Arg
NM_001282545.2:c.215+15576A>G	NP_001269474.1:n.215+15576A>G
NM_001282548.2:c.158+27927A>G	NP_001269477.1:n.158+27927A>G
NM_001282549.2:c.364+10812A>G	NP_001269478.1:n.364+10812A>G
NR_104212.2:n.354A>G
NR_104215.2:n.297A>G
NR_104216.2:n.478+10812A>G