Canonical Allele Identifier: CA350449956

Gene: BARD1

Linked Data

• ClinVar Variation Id: 820985
• ClinVar RCV Id: RCV001014988 ; RCV001363772
• dbSNP Id: rs786202118
• MyVariant Identifiers: chr2:g.215593466C>G (hg19) ; chr2:g.214728742C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728742C>G , CM000664.2:g.214728742C>G	GRCh38
NC_000002.11:g.215593466C>G , CM000664.1:g.215593466C>G	GRCh37
NC_000002.10:g.215301711C>G	NCBI36
NG_012047.2:g.85963G>C
NG_012047.3:g.85970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2268G>C MANE Select	ENSP00000260947.4:p.Trp756Cys
ENST00000421162.2:c.915G>C	ENSP00000392245.2:p.Trp305Cys
ENST00000613192.2:c.*331G>C	ENSP00000483275.2:n.*331G>C
ENST00000613374.5:c.858G>C	ENSP00000484464.1:p.Trp286Cys
ENST00000613706.5:c.1860G>C	ENSP00000484976.2:p.Trp620Cys
ENST00000617164.5:c.2211G>C	ENSP00000480470.1:p.Trp737Cys
ENST00000619009.5:c.729G>C	ENSP00000482293.1:p.Trp243Cys
ENST00000650978.1:c.3643G>C
ENST00000260947.8:c.2268G>C	ENSP00000260947.4:p.Trp756Cys
ENST00000432456.5:c.411G>C
ENST00000455743.5:c.*1888G>C	ENSP00000412186.1:n.*1888G>C
ENST00000471590.5:n.603G>C
ENST00000613192.1:c.438G>C	ENSP00000483275.1:p.Trp146Cys
ENST00000613374.4:c.858G>C	ENSP00000484464.1:p.Trp286Cys
ENST00000613706.4:c.915G>C	ENSP00000484976.1:p.Trp305Cys
ENST00000617164.4:c.2211G>C	ENSP00000480470.1:p.Trp737Cys
ENST00000619009.4:c.729G>C	ENSP00000482293.1:p.Trp243Cys
ENST00000620057.4:c.*934G>C	ENSP00000481988.1:n.*934G>C
NM_000465.3:c.2268G>C	NP_000456.2:p.Trp756Cys
NM_001282543.1:c.2211G>C	NP_001269472.1:p.Trp737Cys
NM_001282545.1:c.915G>C	NP_001269474.1:p.Trp305Cys
NM_001282548.1:c.858G>C	NP_001269477.1:p.Trp286Cys
NM_001282549.1:c.729G>C	NP_001269478.1:p.Trp243Cys
NR_104212.1:n.2261G>C
NR_104215.1:n.2204G>C
NR_104216.1:n.1460G>C
XM_011511567.1:c.2214G>C	XP_011509869.1:p.Trp738Cys
XM_017004613.1:c.2367G>C	XP_016860102.1:p.Trp789Cys
XR_002959322.1:n.2634G>C
NM_000465.4:c.2268G>C MANE Select	NP_000456.2:p.Trp756Cys
NM_001282543.2:c.2211G>C	NP_001269472.1:p.Trp737Cys
NM_001282545.2:c.915G>C	NP_001269474.1:p.Trp305Cys
NM_001282548.2:c.858G>C	NP_001269477.1:p.Trp286Cys
NM_001282549.2:c.729G>C	NP_001269478.1:p.Trp243Cys
NR_104212.2:n.2233G>C
NR_104215.2:n.2176G>C
NR_104216.2:n.1432G>C