Canonical Allele Identifier: CA64802334

Gene: BARD1

Linked Data

• ClinVar Variation Id: 820238
• ClinVar RCV Id: RCV001013486 ; RCV001396512
• dbSNP Id: rs968535447
• MyVariant Identifiers: chr2:g.215609813T>C (hg19) ; chr2:g.214745089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745089T>C , CM000664.2:g.214745089T>C	GRCh38
NC_000002.11:g.215609813T>C , CM000664.1:g.215609813T>C	GRCh37
NC_000002.10:g.215318058T>C	NCBI36
NG_012047.2:g.69616A>G
NG_012047.3:g.69623A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1881A>G MANE Select	ENSP00000260947.4:p.Gly627=
ENST00000421162.2:c.528A>G	ENSP00000392245.2:p.Gly176=
ENST00000613192.2:c.159-14581A>G	ENSP00000483275.2:n.159-14581A>G
ENST00000613374.5:c.471A>G	ENSP00000484464.1:p.Gly157=
ENST00000613706.5:c.1473A>G	ENSP00000484976.2:p.Gly491=
ENST00000617164.5:c.1824A>G	ENSP00000480470.1:p.Gly608=
ENST00000619009.5:c.365-14581A>G	ENSP00000482293.1:n.365-14581A>G
ENST00000650978.1:c.3256A>G
ENST00000260947.8:c.1881A>G	ENSP00000260947.4:p.Gly627=
ENST00000421162.1:c.528A>G	ENSP00000392245.1:p.Gly176=
ENST00000455743.5:c.*1501A>G	ENSP00000412186.1:n.*1501A>G
ENST00000613192.1:c.74-14581A>G	ENSP00000483275.1:n.74-14581A>G
ENST00000613374.4:c.471A>G	ENSP00000484464.1:p.Gly157=
ENST00000613706.4:c.528A>G	ENSP00000484976.1:p.Gly176=
ENST00000617164.4:c.1824A>G	ENSP00000480470.1:p.Gly608=
ENST00000619009.4:c.365-14581A>G	ENSP00000482293.1:n.365-14581A>G
ENST00000620057.4:c.*547A>G	ENSP00000481988.1:n.*547A>G
NM_000465.3:c.1881A>G	NP_000456.2:p.Gly627=
NM_001282543.1:c.1824A>G	NP_001269472.1:p.Gly608=
NM_001282545.1:c.528A>G	NP_001269474.1:p.Gly176=
NM_001282548.1:c.471A>G	NP_001269477.1:p.Gly157=
NM_001282549.1:c.365-14581A>G	NP_001269478.1:n.365-14581A>G
NR_104212.1:n.1874A>G
NR_104215.1:n.1817A>G
NR_104216.1:n.1073A>G
XM_011511567.1:c.1827A>G	XP_011509869.1:p.Gly609=
XM_011511568.1:c.1881A>G	XP_011509870.1:p.Gly627=
XM_017004613.1:c.1980A>G	XP_016860102.1:p.Gly660=
XM_017004614.1:c.1980A>G	XP_016860103.1:p.Gly660=
XR_002959322.1:n.2071A>G
NM_000465.4:c.1881A>G MANE Select	NP_000456.2:p.Gly627=
NM_001282543.2:c.1824A>G	NP_001269472.1:p.Gly608=
NM_001282545.2:c.528A>G	NP_001269474.1:p.Gly176=
NM_001282548.2:c.471A>G	NP_001269477.1:p.Gly157=
NM_001282549.2:c.365-14581A>G	NP_001269478.1:n.365-14581A>G
NR_104212.2:n.1846A>G
NR_104215.2:n.1789A>G
NR_104216.2:n.1045A>G