Canonical Allele Identifier: CA16610720

Gene: BARD1

Linked Data

• ClinVar Variation Id: 406742
• ClinVar RCV Id: RCV000461429 ; RCV001185310
• dbSNP Id: rs1060501283
• MyVariant Identifiers: chr2:g.215595155T>C (hg19) ; chr2:g.214730431T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730431T>C , CM000664.2:g.214730431T>C	GRCh38
NC_000002.11:g.215595155T>C , CM000664.1:g.215595155T>C	GRCh37
NC_000002.10:g.215303400T>C	NCBI36
NG_012047.2:g.84274A>G
NG_012047.3:g.84281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1981A>G MANE Select	ENSP00000260947.4:p.Arg661Gly
ENST00000421162.2:c.628A>G	ENSP00000392245.2:p.Arg210Gly
ENST00000613192.2:c.*44A>G	ENSP00000483275.2:n.*44A>G
ENST00000613374.5:c.571A>G	ENSP00000484464.1:p.Arg191Gly
ENST00000613706.5:c.1573A>G	ENSP00000484976.2:p.Arg525Gly
ENST00000617164.5:c.1924A>G	ENSP00000480470.1:p.Arg642Gly
ENST00000619009.5:c.442A>G	ENSP00000482293.1:p.Arg148Gly
ENST00000650978.1:c.3356A>G
ENST00000260947.8:c.1981A>G	ENSP00000260947.4:p.Arg661Gly
ENST00000421162.1:c.628A>G	ENSP00000392245.1:p.Arg210Gly
ENST00000432456.5:c.78A>G
ENST00000455743.5:c.*1601A>G	ENSP00000412186.1:n.*1601A>G
ENST00000471590.5:n.316A>G
ENST00000613192.1:c.151A>G	ENSP00000483275.1:p.Arg51Gly
ENST00000613374.4:c.571A>G	ENSP00000484464.1:p.Arg191Gly
ENST00000613706.4:c.628A>G	ENSP00000484976.1:p.Arg210Gly
ENST00000617164.4:c.1924A>G	ENSP00000480470.1:p.Arg642Gly
ENST00000619009.4:c.442A>G	ENSP00000482293.1:p.Arg148Gly
ENST00000620057.4:c.*647A>G	ENSP00000481988.1:n.*647A>G
NM_000465.3:c.1981A>G	NP_000456.2:p.Arg661Gly
NM_001282543.1:c.1924A>G	NP_001269472.1:p.Arg642Gly
NM_001282545.1:c.628A>G	NP_001269474.1:p.Arg210Gly
NM_001282548.1:c.571A>G	NP_001269477.1:p.Arg191Gly
NM_001282549.1:c.442A>G	NP_001269478.1:p.Arg148Gly
NR_104212.1:n.1974A>G
NR_104215.1:n.1917A>G
NR_104216.1:n.1173A>G
XM_011511567.1:c.1927A>G	XP_011509869.1:p.Arg643Gly
XM_017004613.1:c.2080A>G	XP_016860102.1:p.Arg694Gly
XR_002959322.1:n.2171A>G
NM_000465.4:c.1981A>G MANE Select	NP_000456.2:p.Arg661Gly
NM_001282543.2:c.1924A>G	NP_001269472.1:p.Arg642Gly
NM_001282545.2:c.628A>G	NP_001269474.1:p.Arg210Gly
NM_001282548.2:c.571A>G	NP_001269477.1:p.Arg191Gly
NM_001282549.2:c.442A>G	NP_001269478.1:p.Arg148Gly
NR_104212.2:n.1946A>G
NR_104215.2:n.1889A>G
NR_104216.2:n.1145A>G