Canonical Allele Identifier: CA350450004

Gene: BARD1

Linked Data

• ClinVar Variation Id: 853807
• ClinVar RCV Id: RCV001058695 ; RCV003393827
• dbSNP Id: rs1692200373
• MyVariant Identifiers: chr2:g.215593488C>G (hg19) ; chr2:g.214728764C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728764C>G , CM000664.2:g.214728764C>G	GRCh38
NC_000002.11:g.215593488C>G , CM000664.1:g.215593488C>G	GRCh37
NC_000002.10:g.215301733C>G	NCBI36
NG_012047.2:g.85941G>C
NG_012047.3:g.85948G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2246G>C MANE Select	ENSP00000260947.4:p.Arg749Thr
ENST00000421162.2:c.893G>C	ENSP00000392245.2:p.Arg298Thr
ENST00000613192.2:c.*309G>C	ENSP00000483275.2:n.*309G>C
ENST00000613374.5:c.836G>C	ENSP00000484464.1:p.Arg279Thr
ENST00000613706.5:c.1838G>C	ENSP00000484976.2:p.Arg613Thr
ENST00000617164.5:c.2189G>C	ENSP00000480470.1:p.Arg730Thr
ENST00000619009.5:c.707G>C	ENSP00000482293.1:p.Arg236Thr
ENST00000650978.1:c.3621G>C
ENST00000260947.8:c.2246G>C	ENSP00000260947.4:p.Arg749Thr
ENST00000432456.5:c.389G>C
ENST00000455743.5:c.*1866G>C	ENSP00000412186.1:n.*1866G>C
ENST00000471590.5:n.581G>C
ENST00000613192.1:c.416G>C	ENSP00000483275.1:p.Arg139Thr
ENST00000613374.4:c.836G>C	ENSP00000484464.1:p.Arg279Thr
ENST00000613706.4:c.893G>C	ENSP00000484976.1:p.Arg298Thr
ENST00000617164.4:c.2189G>C	ENSP00000480470.1:p.Arg730Thr
ENST00000619009.4:c.707G>C	ENSP00000482293.1:p.Arg236Thr
ENST00000620057.4:c.*912G>C	ENSP00000481988.1:n.*912G>C
NM_000465.3:c.2246G>C	NP_000456.2:p.Arg749Thr
NM_001282543.1:c.2189G>C	NP_001269472.1:p.Arg730Thr
NM_001282545.1:c.893G>C	NP_001269474.1:p.Arg298Thr
NM_001282548.1:c.836G>C	NP_001269477.1:p.Arg279Thr
NM_001282549.1:c.707G>C	NP_001269478.1:p.Arg236Thr
NR_104212.1:n.2239G>C
NR_104215.1:n.2182G>C
NR_104216.1:n.1438G>C
XM_011511567.1:c.2192G>C	XP_011509869.1:p.Arg731Thr
XM_017004613.1:c.2345G>C	XP_016860102.1:p.Arg782Thr
XR_002959322.1:n.2612G>C
NM_000465.4:c.2246G>C MANE Select	NP_000456.2:p.Arg749Thr
NM_001282543.2:c.2189G>C	NP_001269472.1:p.Arg730Thr
NM_001282545.2:c.893G>C	NP_001269474.1:p.Arg298Thr
NM_001282548.2:c.836G>C	NP_001269477.1:p.Arg279Thr
NM_001282549.2:c.707G>C	NP_001269478.1:p.Arg236Thr
NR_104212.2:n.2211G>C
NR_104215.2:n.2154G>C
NR_104216.2:n.1410G>C