Canonical Allele Identifier: CA350449822

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1010066
• ClinVar RCV Id: RCV001307645 ; RCV003166752
• dbSNP Id: rs1692192234
• gnomAD v4: 2-214728713-C-T
• MyVariant Identifiers: chr2:g.215593437C>T (hg19) ; chr2:g.214728713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728713C>T , CM000664.2:g.214728713C>T	GRCh38
NC_000002.11:g.215593437C>T , CM000664.1:g.215593437C>T	GRCh37
NC_000002.10:g.215301682C>T	NCBI36
NG_012047.2:g.85992G>A
NG_012047.3:g.85999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2297G>A MANE Select	ENSP00000260947.4:p.Cys766Tyr
ENST00000421162.2:c.944G>A	ENSP00000392245.2:p.Cys315Tyr
ENST00000613192.2:c.*360G>A	ENSP00000483275.2:n.*360G>A
ENST00000613374.5:c.887G>A	ENSP00000484464.1:p.Cys296Tyr
ENST00000613706.5:c.1889G>A	ENSP00000484976.2:p.Cys630Tyr
ENST00000617164.5:c.2240G>A	ENSP00000480470.1:p.Cys747Tyr
ENST00000619009.5:c.758G>A	ENSP00000482293.1:p.Cys253Tyr
ENST00000650978.1:c.3672G>A
ENST00000260947.8:c.2297G>A	ENSP00000260947.4:p.Cys766Tyr
ENST00000432456.5:c.440G>A
ENST00000455743.5:c.*1917G>A	ENSP00000412186.1:n.*1917G>A
ENST00000471590.5:n.632G>A
ENST00000613192.1:c.467G>A	ENSP00000483275.1:p.Cys156Tyr
ENST00000613374.4:c.887G>A	ENSP00000484464.1:p.Cys296Tyr
ENST00000613706.4:c.944G>A	ENSP00000484976.1:p.Cys315Tyr
ENST00000617164.4:c.2240G>A	ENSP00000480470.1:p.Cys747Tyr
ENST00000619009.4:c.758G>A	ENSP00000482293.1:p.Cys253Tyr
ENST00000620057.4:c.*963G>A	ENSP00000481988.1:n.*963G>A
NM_000465.3:c.2297G>A	NP_000456.2:p.Cys766Tyr
NM_001282543.1:c.2240G>A	NP_001269472.1:p.Cys747Tyr
NM_001282545.1:c.944G>A	NP_001269474.1:p.Cys315Tyr
NM_001282548.1:c.887G>A	NP_001269477.1:p.Cys296Tyr
NM_001282549.1:c.758G>A	NP_001269478.1:p.Cys253Tyr
NR_104212.1:n.2290G>A
NR_104215.1:n.2233G>A
NR_104216.1:n.1489G>A
XM_011511567.1:c.2243G>A	XP_011509869.1:p.Cys748Tyr
XM_017004613.1:c.2396G>A	XP_016860102.1:p.Cys799Tyr
XR_002959322.1:n.2663G>A
NM_000465.4:c.2297G>A MANE Select	NP_000456.2:p.Cys766Tyr
NM_001282543.2:c.2240G>A	NP_001269472.1:p.Cys747Tyr
NM_001282545.2:c.944G>A	NP_001269474.1:p.Cys315Tyr
NM_001282548.2:c.887G>A	NP_001269477.1:p.Cys296Tyr
NM_001282549.2:c.758G>A	NP_001269478.1:p.Cys253Tyr
NR_104212.2:n.2262G>A
NR_104215.2:n.2205G>A
NR_104216.2:n.1461G>A