Canonical Allele Identifier: CA658683287

Gene: BARD1

Linked Data

• ClinVar Variation Id: 490916
• ClinVar RCV Id: RCV000583718 ; RCV003336064
• dbSNP Id: rs1553622300
• MyVariant Identifiers: chr2:g.215645577dup (hg19) ; chr2:g.214780853dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780853dup , CM000664.2:g.214780853dup	GRCh38
NC_000002.11:g.215645577dup , CM000664.1:g.215645577dup	GRCh37
NC_000002.10:g.215353822dup	NCBI36
NG_012047.2:g.33852dup
NG_012047.3:g.33859dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1021dup MANE Select	ENSP00000260947.4:p.Leu341ProfsTer9
ENST00000421162.2:c.215+16208dup	ENSP00000392245.2:n.215+16208dup
ENST00000613192.2:c.158+28559dup	ENSP00000483275.2:n.158+28559dup
ENST00000613374.5:c.159-28298dup	ENSP00000484464.1:n.159-28298dup
ENST00000613706.5:c.906+115dup	ENSP00000484976.2:n.906+115dup
ENST00000617164.5:c.964dup	ENSP00000480470.1:p.Leu322ProfsTer9
ENST00000619009.5:c.364+11444dup	ENSP00000482293.1:n.364+11444dup
ENST00000650978.1:c.863dup
ENST00000260947.8:c.1021dup	ENSP00000260947.4:p.Leu341ProfsTer9
ENST00000421162.1:c.215+16208dup	ENSP00000392245.1:n.215+16208dup
ENST00000455743.5:c.*641dup	ENSP00000412186.1:n.*641dup
ENST00000613192.1:c.73+28559dup	ENSP00000483275.1:n.73+28559dup
ENST00000613374.4:c.159-28298dup	ENSP00000484464.1:n.159-28298dup
ENST00000613706.4:c.215+16208dup	ENSP00000484976.1:n.215+16208dup
ENST00000617164.4:c.964dup	ENSP00000480470.1:p.Leu322ProfsTer9
ENST00000619009.4:c.364+11444dup	ENSP00000482293.1:n.364+11444dup
ENST00000620057.4:c.364+11444dup	ENSP00000481988.1:n.364+11444dup
NM_000465.3:c.1021dup	NP_000456.2:p.Leu341ProfsTer9
NM_001282543.1:c.964dup	NP_001269472.1:p.Leu322ProfsTer9
NM_001282545.1:c.215+16208dup	NP_001269474.1:n.215+16208dup
NM_001282548.1:c.159-28298dup	NP_001269477.1:n.159-28298dup
NM_001282549.1:c.364+11444dup	NP_001269478.1:n.364+11444dup
NR_104212.1:n.1014dup
NR_104215.1:n.957dup
NR_104216.1:n.506+11444dup
XM_011511567.1:c.967dup	XP_011509869.1:p.Leu323ProfsTer9
XM_011511568.1:c.1021dup	XP_011509870.1:p.Leu341ProfsTer9
XM_017004613.1:c.1120dup	XP_016860102.1:p.Leu374ProfsTer9
XM_017004614.1:c.1120dup	XP_016860103.1:p.Leu374ProfsTer9
XR_002959322.1:n.1211dup
NM_000465.4:c.1021dup MANE Select	NP_000456.2:p.Leu341ProfsTer9
NM_001282543.2:c.964dup	NP_001269472.1:p.Leu322ProfsTer9
NM_001282545.2:c.215+16208dup	NP_001269474.1:n.215+16208dup
NM_001282548.2:c.159-28298dup	NP_001269477.1:n.159-28298dup
NM_001282549.2:c.364+11444dup	NP_001269478.1:n.364+11444dup
NR_104212.2:n.986dup
NR_104215.2:n.929dup
NR_104216.2:n.478+11444dup