Canonical Allele Identifier: CA350449916

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593452C>G (hg19) ; chr2:g.214728728C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728728C>G , CM000664.2:g.214728728C>G	GRCh38
NC_000002.11:g.215593452C>G , CM000664.1:g.215593452C>G	GRCh37
NC_000002.10:g.215301697C>G	NCBI36
NG_012047.2:g.85977G>C
NG_012047.3:g.85984G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2282G>C MANE Select	ENSP00000260947.4:p.Ser761Thr
ENST00000421162.2:c.929G>C	ENSP00000392245.2:p.Ser310Thr
ENST00000613192.2:c.*345G>C	ENSP00000483275.2:n.*345G>C
ENST00000613374.5:c.872G>C	ENSP00000484464.1:p.Ser291Thr
ENST00000613706.5:c.1874G>C	ENSP00000484976.2:p.Ser625Thr
ENST00000617164.5:c.2225G>C	ENSP00000480470.1:p.Ser742Thr
ENST00000619009.5:c.743G>C	ENSP00000482293.1:p.Ser248Thr
ENST00000650978.1:c.3657G>C
ENST00000260947.8:c.2282G>C	ENSP00000260947.4:p.Ser761Thr
ENST00000432456.5:c.425G>C
ENST00000455743.5:c.*1902G>C	ENSP00000412186.1:n.*1902G>C
ENST00000471590.5:n.617G>C
ENST00000613192.1:c.452G>C	ENSP00000483275.1:p.Ser151Thr
ENST00000613374.4:c.872G>C	ENSP00000484464.1:p.Ser291Thr
ENST00000613706.4:c.929G>C	ENSP00000484976.1:p.Ser310Thr
ENST00000617164.4:c.2225G>C	ENSP00000480470.1:p.Ser742Thr
ENST00000619009.4:c.743G>C	ENSP00000482293.1:p.Ser248Thr
ENST00000620057.4:c.*948G>C	ENSP00000481988.1:n.*948G>C
NM_000465.3:c.2282G>C	NP_000456.2:p.Ser761Thr
NM_001282543.1:c.2225G>C	NP_001269472.1:p.Ser742Thr
NM_001282545.1:c.929G>C	NP_001269474.1:p.Ser310Thr
NM_001282548.1:c.872G>C	NP_001269477.1:p.Ser291Thr
NM_001282549.1:c.743G>C	NP_001269478.1:p.Ser248Thr
NR_104212.1:n.2275G>C
NR_104215.1:n.2218G>C
NR_104216.1:n.1474G>C
XM_011511567.1:c.2228G>C	XP_011509869.1:p.Ser743Thr
XM_017004613.1:c.2381G>C	XP_016860102.1:p.Ser794Thr
XR_002959322.1:n.2648G>C
NM_000465.4:c.2282G>C MANE Select	NP_000456.2:p.Ser761Thr
NM_001282543.2:c.2225G>C	NP_001269472.1:p.Ser742Thr
NM_001282545.2:c.929G>C	NP_001269474.1:p.Ser310Thr
NM_001282548.2:c.872G>C	NP_001269477.1:p.Ser291Thr
NM_001282549.2:c.743G>C	NP_001269478.1:p.Ser248Thr
NR_104212.2:n.2247G>C
NR_104215.2:n.2190G>C
NR_104216.2:n.1446G>C