Canonical Allele Identifier: CA196342

Gene: BARD1

Linked Data

• ClinVar Variation Id: 186958
• ClinVar RCV Id: RCV000166628
• dbSNP Id: rs786203353
• MyVariant Identifiers: chr2:g.215593402A>G (hg19) ; chr2:g.214728678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728678A>G , CM000664.2:g.214728678A>G	GRCh38
NC_000002.11:g.215593402A>G , CM000664.1:g.215593402A>G	GRCh37
NC_000002.10:g.215301647A>G	NCBI36
NG_012047.2:g.86027T>C
NG_012047.3:g.86034T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2332T>C MANE Select	ENSP00000260947.4:p.Ter778Arg
ENST00000421162.2:c.979T>C	ENSP00000392245.2:p.Ter327Arg
ENST00000613192.2:c.*395T>C	ENSP00000483275.2:n.*395T>C
ENST00000613374.5:c.922T>C	ENSP00000484464.1:p.Ter308Arg
ENST00000613706.5:c.1924T>C	ENSP00000484976.2:p.Ter642Arg
ENST00000617164.5:c.2275T>C	ENSP00000480470.1:p.Ter759Arg
ENST00000619009.5:c.793T>C	ENSP00000482293.1:p.Ter265Arg
ENST00000650978.1:c.3707T>C
ENST00000260947.8:c.2332T>C	ENSP00000260947.4:p.Ter778Arg
ENST00000432456.5:c.475T>C
ENST00000471590.5:n.667T>C
ENST00000613192.1:c.502T>C	ENSP00000483275.1:p.Ter168Arg
ENST00000613374.4:c.922T>C	ENSP00000484464.1:p.Ter308Arg
ENST00000613706.4:c.979T>C	ENSP00000484976.1:p.Ter327Arg
ENST00000617164.4:c.2275T>C	ENSP00000480470.1:p.Ter759Arg
ENST00000619009.4:c.793T>C	ENSP00000482293.1:p.Ter265Arg
ENST00000620057.4:c.*998T>C	ENSP00000481988.1:n.*998T>C
NM_000465.3:c.2332T>C	NP_000456.2:p.Ter778Arg
NM_001282543.1:c.2275T>C	NP_001269472.1:p.Ter759Arg
NM_001282545.1:c.979T>C	NP_001269474.1:p.Ter327Arg
NM_001282548.1:c.922T>C	NP_001269477.1:p.Ter308Arg
NM_001282549.1:c.793T>C	NP_001269478.1:p.Ter265Arg
NR_104212.1:n.2325T>C
NR_104215.1:n.2268T>C
NR_104216.1:n.1524T>C
XM_011511567.1:c.2278T>C	XP_011509869.1:p.Ter760Arg
XM_017004613.1:c.2431T>C	XP_016860102.1:p.Ter811Arg
XR_002959322.1:n.2698T>C
NM_000465.4:c.2332T>C MANE Select	NP_000456.2:p.Ter778Arg
NM_001282543.2:c.2275T>C	NP_001269472.1:p.Ter759Arg
NM_001282545.2:c.979T>C	NP_001269474.1:p.Ter327Arg
NM_001282548.2:c.922T>C	NP_001269477.1:p.Ter308Arg
NM_001282549.2:c.793T>C	NP_001269478.1:p.Ter265Arg
NR_104212.2:n.2297T>C
NR_104215.2:n.2240T>C
NR_104216.2:n.1496T>C