Canonical Allele Identifier: CA431141758

Gene: BARD1

Linked Data

• dbSNP Id: rs2106134690
• MyVariant Identifiers: chr2:g.215657076G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792352G>A , CM000664.2:g.214792352G>A	GRCh38
NC_000002.11:g.215657076G>A , CM000664.1:g.215657076G>A	GRCh37
NC_000002.10:g.215365321G>A	NCBI36
NG_012047.2:g.22353C>T
NG_012047.3:g.22360C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.309C>T MANE Select	ENSP00000260947.4:p.Ser103=
ENST00000421162.2:c.215+4709C>T	ENSP00000392245.2:n.215+4709C>T
ENST00000613192.2:c.158+17060C>T	ENSP00000483275.2:n.158+17060C>T
ENST00000613374.5:c.158+17060C>T	ENSP00000484464.1:n.158+17060C>T
ENST00000613706.5:c.309C>T	ENSP00000484976.2:p.Ser103=
ENST00000617164.5:c.252C>T	ENSP00000480470.1:p.Ser84=
ENST00000619009.5:c.309C>T	ENSP00000482293.1:p.Ser103=
ENST00000650978.1:c.151C>T
ENST00000260947.8:c.309C>T	ENSP00000260947.4:p.Ser103=
ENST00000421162.1:c.215+4709C>T	ENSP00000392245.1:n.215+4709C>T
ENST00000455743.5:c.215+4709C>T	ENSP00000412186.1:n.215+4709C>T
ENST00000471787.1:n.260-10843C>T
ENST00000613192.1:c.73+17060C>T	ENSP00000483275.1:n.73+17060C>T
ENST00000613374.4:c.158+17060C>T	ENSP00000484464.1:n.158+17060C>T
ENST00000613706.4:c.215+4709C>T	ENSP00000484976.1:n.215+4709C>T
ENST00000617164.4:c.252C>T	ENSP00000480470.1:p.Ser84=
ENST00000619009.4:c.309C>T	ENSP00000482293.1:p.Ser103=
ENST00000620057.4:c.309C>T	ENSP00000481988.1:p.Ser103=
NM_000465.3:c.309C>T	NP_000456.2:p.Ser103=
NM_001282543.1:c.252C>T	NP_001269472.1:p.Ser84=
NM_001282545.1:c.215+4709C>T	NP_001269474.1:n.215+4709C>T
NM_001282548.1:c.158+17060C>T	NP_001269477.1:n.158+17060C>T
NM_001282549.1:c.309C>T	NP_001269478.1:p.Ser103=
NR_104212.1:n.357+4709C>T
NR_104215.1:n.301-10843C>T
NR_104216.1:n.451C>T
XM_011511567.1:c.255C>T	XP_011509869.1:p.Ser85=
XM_011511568.1:c.309C>T	XP_011509870.1:p.Ser103=
XM_017004613.1:c.408C>T	XP_016860102.1:p.Ser136=
XM_017004614.1:c.408C>T	XP_016860103.1:p.Ser136=
XR_002959322.1:n.499C>T
NM_000465.4:c.309C>T MANE Select	NP_000456.2:p.Ser103=
NM_001282543.2:c.252C>T	NP_001269472.1:p.Ser84=
NM_001282545.2:c.215+4709C>T	NP_001269474.1:n.215+4709C>T
NM_001282548.2:c.158+17060C>T	NP_001269477.1:n.158+17060C>T
NM_001282549.2:c.309C>T	NP_001269478.1:p.Ser103=
NR_104212.2:n.329+4709C>T
NR_104215.2:n.273-10843C>T
NR_104216.2:n.423C>T