Canonical Allele Identifier: CA658657207

Gene: BARD1

Linked Data

• ClinVar Variation Id: 482793
• ClinVar RCV Id: RCV000576127 ; RCV001043352
• dbSNP Id: rs1553622397
• MyVariant Identifiers: chr2:g.215645740dup (hg19) ; chr2:g.214781016dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781016dup , CM000664.2:g.214781016dup	GRCh38
NC_000002.11:g.215645740dup , CM000664.1:g.215645740dup	GRCh37
NC_000002.10:g.215353985dup	NCBI36
NG_012047.2:g.33689dup
NG_012047.3:g.33696dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.858dup MANE Select	ENSP00000260947.4:p.Glu287ArgfsTer6
ENST00000421162.2:c.215+16045dup	ENSP00000392245.2:n.215+16045dup
ENST00000613192.2:c.158+28396dup	ENSP00000483275.2:n.158+28396dup
ENST00000613374.5:c.158+28396dup	ENSP00000484464.1:n.158+28396dup
ENST00000613706.5:c.858dup	ENSP00000484976.2:p.Glu287ArgfsTer6
ENST00000617164.5:c.801dup	ENSP00000480470.1:p.Glu268ArgfsTer6
ENST00000619009.5:c.364+11281dup	ENSP00000482293.1:n.364+11281dup
ENST00000650978.1:c.700dup
ENST00000260947.8:c.858dup	ENSP00000260947.4:p.Glu287ArgfsTer6
ENST00000421162.1:c.215+16045dup	ENSP00000392245.1:n.215+16045dup
ENST00000455743.5:c.*478dup	ENSP00000412186.1:n.*478dup
ENST00000471787.1:n.753dup
ENST00000613192.1:c.73+28396dup	ENSP00000483275.1:n.73+28396dup
ENST00000613374.4:c.158+28396dup	ENSP00000484464.1:n.158+28396dup
ENST00000613706.4:c.215+16045dup	ENSP00000484976.1:n.215+16045dup
ENST00000617164.4:c.801dup	ENSP00000480470.1:p.Glu268ArgfsTer6
ENST00000619009.4:c.364+11281dup	ENSP00000482293.1:n.364+11281dup
ENST00000620057.4:c.364+11281dup	ENSP00000481988.1:n.364+11281dup
NM_000465.3:c.858dup	NP_000456.2:p.Glu287ArgfsTer6
NM_001282543.1:c.801dup	NP_001269472.1:p.Glu268ArgfsTer6
NM_001282545.1:c.215+16045dup	NP_001269474.1:n.215+16045dup
NM_001282548.1:c.158+28396dup	NP_001269477.1:n.158+28396dup
NM_001282549.1:c.364+11281dup	NP_001269478.1:n.364+11281dup
NR_104212.1:n.851dup
NR_104215.1:n.794dup
NR_104216.1:n.506+11281dup
XM_011511567.1:c.804dup	XP_011509869.1:p.Glu269ArgfsTer6
XM_011511568.1:c.858dup	XP_011509870.1:p.Glu287ArgfsTer6
XM_017004613.1:c.957dup	XP_016860102.1:p.Glu320ArgfsTer6
XM_017004614.1:c.957dup	XP_016860103.1:p.Glu320ArgfsTer6
XR_002959322.1:n.1048dup
NM_000465.4:c.858dup MANE Select	NP_000456.2:p.Glu287ArgfsTer6
NM_001282543.2:c.801dup	NP_001269472.1:p.Glu268ArgfsTer6
NM_001282545.2:c.215+16045dup	NP_001269474.1:n.215+16045dup
NM_001282548.2:c.158+28396dup	NP_001269477.1:n.158+28396dup
NM_001282549.2:c.364+11281dup	NP_001269478.1:n.364+11281dup
NR_104212.2:n.823dup
NR_104215.2:n.766dup
NR_104216.2:n.478+11281dup