Canonical Allele Identifier: CA658657206

Gene: BARD1

Linked Data

• ClinVar Variation Id: 479161
• ClinVar RCV Id: RCV000575331 ; RCV002526770
• dbSNP Id: rs1553622378
• MyVariant Identifiers: chr2:g.215645725dup (hg19) ; chr2:g.214781001dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781001dup , CM000664.2:g.214781001dup	GRCh38
NC_000002.11:g.215645725dup , CM000664.1:g.215645725dup	GRCh37
NC_000002.10:g.215353970dup	NCBI36
NG_012047.2:g.33704dup
NG_012047.3:g.33711dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.873dup MANE Select	ENSP00000260947.4:p.Lys292Ter
ENST00000421162.2:c.215+16060dup	ENSP00000392245.2:n.215+16060dup
ENST00000613192.2:c.158+28411dup	ENSP00000483275.2:n.158+28411dup
ENST00000613374.5:c.158+28411dup	ENSP00000484464.1:n.158+28411dup
ENST00000613706.5:c.873dup	ENSP00000484976.2:p.Lys292Ter
ENST00000617164.5:c.816dup	ENSP00000480470.1:p.Lys273Ter
ENST00000619009.5:c.364+11296dup	ENSP00000482293.1:n.364+11296dup
ENST00000650978.1:c.715dup
ENST00000260947.8:c.873dup	ENSP00000260947.4:p.Lys292Ter
ENST00000421162.1:c.215+16060dup	ENSP00000392245.1:n.215+16060dup
ENST00000455743.5:c.*493dup	ENSP00000412186.1:n.*493dup
ENST00000471787.1:n.768dup
ENST00000613192.1:c.73+28411dup	ENSP00000483275.1:n.73+28411dup
ENST00000613374.4:c.158+28411dup	ENSP00000484464.1:n.158+28411dup
ENST00000613706.4:c.215+16060dup	ENSP00000484976.1:n.215+16060dup
ENST00000617164.4:c.816dup	ENSP00000480470.1:p.Lys273Ter
ENST00000619009.4:c.364+11296dup	ENSP00000482293.1:n.364+11296dup
ENST00000620057.4:c.364+11296dup	ENSP00000481988.1:n.364+11296dup
NM_000465.3:c.873dup	NP_000456.2:p.Lys292Ter
NM_001282543.1:c.816dup	NP_001269472.1:p.Lys273Ter
NM_001282545.1:c.215+16060dup	NP_001269474.1:n.215+16060dup
NM_001282548.1:c.158+28411dup	NP_001269477.1:n.158+28411dup
NM_001282549.1:c.364+11296dup	NP_001269478.1:n.364+11296dup
NR_104212.1:n.866dup
NR_104215.1:n.809dup
NR_104216.1:n.506+11296dup
XM_011511567.1:c.819dup	XP_011509869.1:p.Lys274Ter
XM_011511568.1:c.873dup	XP_011509870.1:p.Lys292Ter
XM_017004613.1:c.972dup	XP_016860102.1:p.Lys325Ter
XM_017004614.1:c.972dup	XP_016860103.1:p.Lys325Ter
XR_002959322.1:n.1063dup
NM_000465.4:c.873dup MANE Select	NP_000456.2:p.Lys292Ter
NM_001282543.2:c.816dup	NP_001269472.1:p.Lys273Ter
NM_001282545.2:c.215+16060dup	NP_001269474.1:n.215+16060dup
NM_001282548.2:c.158+28411dup	NP_001269477.1:n.158+28411dup
NM_001282549.2:c.364+11296dup	NP_001269478.1:n.364+11296dup
NR_104212.2:n.838dup
NR_104215.2:n.781dup
NR_104216.2:n.478+11296dup