Canonical Allele Identifier: CA350450526

Gene: BARD1

Linked Data

• ClinVar Variation Id: 485323
• ClinVar RCV Id: RCV000562885
• dbSNP Id: rs1553612168
• gnomAD v4: 2-214728876-C-A
• MyVariant Identifiers: chr2:g.215593600C>A (hg19) ; chr2:g.214728876C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728876C>A , CM000664.2:g.214728876C>A	GRCh38
NC_000002.11:g.215593600C>A , CM000664.1:g.215593600C>A	GRCh37
NC_000002.10:g.215301845C>A	NCBI36
NG_012047.2:g.85829G>T
NG_012047.3:g.85836G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2134G>T MANE Select	ENSP00000260947.4:p.Asp712Tyr
ENST00000421162.2:c.781G>T	ENSP00000392245.2:p.Asp261Tyr
ENST00000613192.2:c.*197G>T	ENSP00000483275.2:n.*197G>T
ENST00000613374.5:c.724G>T	ENSP00000484464.1:p.Asp242Tyr
ENST00000613706.5:c.1726G>T	ENSP00000484976.2:p.Asp576Tyr
ENST00000617164.5:c.2077G>T	ENSP00000480470.1:p.Asp693Tyr
ENST00000619009.5:c.595G>T	ENSP00000482293.1:p.Asp199Tyr
ENST00000650978.1:c.3509G>T
ENST00000260947.8:c.2134G>T	ENSP00000260947.4:p.Asp712Tyr
ENST00000432456.5:c.277G>T
ENST00000455743.5:c.*1754G>T	ENSP00000412186.1:n.*1754G>T
ENST00000471590.5:n.469G>T
ENST00000613192.1:c.304G>T	ENSP00000483275.1:p.Asp102Tyr
ENST00000613374.4:c.724G>T	ENSP00000484464.1:p.Asp242Tyr
ENST00000613706.4:c.781G>T	ENSP00000484976.1:p.Asp261Tyr
ENST00000617164.4:c.2077G>T	ENSP00000480470.1:p.Asp693Tyr
ENST00000619009.4:c.595G>T	ENSP00000482293.1:p.Asp199Tyr
ENST00000620057.4:c.*800G>T	ENSP00000481988.1:n.*800G>T
NM_000465.3:c.2134G>T	NP_000456.2:p.Asp712Tyr
NM_001282543.1:c.2077G>T	NP_001269472.1:p.Asp693Tyr
NM_001282545.1:c.781G>T	NP_001269474.1:p.Asp261Tyr
NM_001282548.1:c.724G>T	NP_001269477.1:p.Asp242Tyr
NM_001282549.1:c.595G>T	NP_001269478.1:p.Asp199Tyr
NR_104212.1:n.2127G>T
NR_104215.1:n.2070G>T
NR_104216.1:n.1326G>T
XM_011511567.1:c.2080G>T	XP_011509869.1:p.Asp694Tyr
XM_017004613.1:c.2233G>T	XP_016860102.1:p.Asp745Tyr
XR_002959322.1:n.2500G>T
NM_000465.4:c.2134G>T MANE Select	NP_000456.2:p.Asp712Tyr
NM_001282543.2:c.2077G>T	NP_001269472.1:p.Asp693Tyr
NM_001282545.2:c.781G>T	NP_001269474.1:p.Asp261Tyr
NM_001282548.2:c.724G>T	NP_001269477.1:p.Asp242Tyr
NM_001282549.2:c.595G>T	NP_001269478.1:p.Asp199Tyr
NR_104212.2:n.2099G>T
NR_104215.2:n.2042G>T
NR_104216.2:n.1298G>T