Canonical Allele Identifier: CA431148000

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215617267A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752543A>C , CM000664.2:g.214752543A>C	GRCh38
NC_000002.11:g.215617267A>C , CM000664.1:g.215617267A>C	GRCh37
NC_000002.10:g.215325512A>C	NCBI36
NG_012047.2:g.62162T>G
NG_012047.3:g.62169T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1581T>G MANE Select	ENSP00000260947.4:p.Gly527=
ENST00000421162.2:c.228T>G	ENSP00000392245.2:p.Gly76=
ENST00000613192.2:c.159-22035T>G	ENSP00000483275.2:n.159-22035T>G
ENST00000613374.5:c.171T>G	ENSP00000484464.1:p.Gly57=
ENST00000613706.5:c.1173T>G	ENSP00000484976.2:p.Gly391=
ENST00000617164.5:c.1524T>G	ENSP00000480470.1:p.Gly508=
ENST00000619009.5:c.365-22035T>G	ENSP00000482293.1:n.365-22035T>G
ENST00000650978.1:c.2956T>G
ENST00000260947.8:c.1581T>G	ENSP00000260947.4:p.Gly527=
ENST00000421162.1:c.228T>G	ENSP00000392245.1:p.Gly76=
ENST00000455743.5:c.*1201T>G	ENSP00000412186.1:n.*1201T>G
ENST00000613192.1:c.74-22035T>G	ENSP00000483275.1:n.74-22035T>G
ENST00000613374.4:c.171T>G	ENSP00000484464.1:p.Gly57=
ENST00000613706.4:c.228T>G	ENSP00000484976.1:p.Gly76=
ENST00000617164.4:c.1524T>G	ENSP00000480470.1:p.Gly508=
ENST00000619009.4:c.365-22035T>G	ENSP00000482293.1:n.365-22035T>G
ENST00000620057.4:c.*247T>G	ENSP00000481988.1:n.*247T>G
NM_000465.3:c.1581T>G	NP_000456.2:p.Gly527=
NM_001282543.1:c.1524T>G	NP_001269472.1:p.Gly508=
NM_001282545.1:c.228T>G	NP_001269474.1:p.Gly76=
NM_001282548.1:c.171T>G	NP_001269477.1:p.Gly57=
NM_001282549.1:c.365-22035T>G	NP_001269478.1:n.365-22035T>G
NR_104212.1:n.1574T>G
NR_104215.1:n.1517T>G
NR_104216.1:n.773T>G
XM_011511567.1:c.1527T>G	XP_011509869.1:p.Gly509=
XM_011511568.1:c.1581T>G	XP_011509870.1:p.Gly527=
XM_017004613.1:c.1680T>G	XP_016860102.1:p.Gly560=
XM_017004614.1:c.1680T>G	XP_016860103.1:p.Gly560=
XR_002959322.1:n.1771T>G
NM_000465.4:c.1581T>G MANE Select	NP_000456.2:p.Gly527=
NM_001282543.2:c.1524T>G	NP_001269472.1:p.Gly508=
NM_001282545.2:c.228T>G	NP_001269474.1:p.Gly76=
NM_001282548.2:c.171T>G	NP_001269477.1:p.Gly57=
NM_001282549.2:c.365-22035T>G	NP_001269478.1:n.365-22035T>G
NR_104212.2:n.1546T>G
NR_104215.2:n.1489T>G
NR_104216.2:n.745T>G