Canonical Allele Identifier: CA350452102

Gene: BARD1

Linked Data

• ClinVar Variation Id: 460727
• ClinVar RCV Id: RCV000538708
• dbSNP Id: rs587781443
• MyVariant Identifiers: chr2:g.215609817T>A (hg19) ; chr2:g.214745093T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745093T>A , CM000664.2:g.214745093T>A	GRCh38
NC_000002.11:g.215609817T>A , CM000664.1:g.215609817T>A	GRCh37
NC_000002.10:g.215318062T>A	NCBI36
NG_012047.2:g.69612A>T
NG_012047.3:g.69619A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1877A>T MANE Select	ENSP00000260947.4:p.Asn626Ile
ENST00000421162.2:c.524A>T	ENSP00000392245.2:p.Asn175Ile
ENST00000613192.2:c.159-14585A>T	ENSP00000483275.2:n.159-14585A>T
ENST00000613374.5:c.467A>T	ENSP00000484464.1:p.Asn156Ile
ENST00000613706.5:c.1469A>T	ENSP00000484976.2:p.Asn490Ile
ENST00000617164.5:c.1820A>T	ENSP00000480470.1:p.Asn607Ile
ENST00000619009.5:c.365-14585A>T	ENSP00000482293.1:n.365-14585A>T
ENST00000650978.1:c.3252A>T
ENST00000260947.8:c.1877A>T	ENSP00000260947.4:p.Asn626Ile
ENST00000421162.1:c.524A>T	ENSP00000392245.1:p.Asn175Ile
ENST00000455743.5:c.*1497A>T	ENSP00000412186.1:n.*1497A>T
ENST00000613192.1:c.74-14585A>T	ENSP00000483275.1:n.74-14585A>T
ENST00000613374.4:c.467A>T	ENSP00000484464.1:p.Asn156Ile
ENST00000613706.4:c.524A>T	ENSP00000484976.1:p.Asn175Ile
ENST00000617164.4:c.1820A>T	ENSP00000480470.1:p.Asn607Ile
ENST00000619009.4:c.365-14585A>T	ENSP00000482293.1:n.365-14585A>T
ENST00000620057.4:c.*543A>T	ENSP00000481988.1:n.*543A>T
NM_000465.3:c.1877A>T	NP_000456.2:p.Asn626Ile
NM_001282543.1:c.1820A>T	NP_001269472.1:p.Asn607Ile
NM_001282545.1:c.524A>T	NP_001269474.1:p.Asn175Ile
NM_001282548.1:c.467A>T	NP_001269477.1:p.Asn156Ile
NM_001282549.1:c.365-14585A>T	NP_001269478.1:n.365-14585A>T
NR_104212.1:n.1870A>T
NR_104215.1:n.1813A>T
NR_104216.1:n.1069A>T
XM_011511567.1:c.1823A>T	XP_011509869.1:p.Asn608Ile
XM_011511568.1:c.1877A>T	XP_011509870.1:p.Asn626Ile
XM_017004613.1:c.1976A>T	XP_016860102.1:p.Asn659Ile
XM_017004614.1:c.1976A>T	XP_016860103.1:p.Asn659Ile
XR_002959322.1:n.2067A>T
NM_000465.4:c.1877A>T MANE Select	NP_000456.2:p.Asn626Ile
NM_001282543.2:c.1820A>T	NP_001269472.1:p.Asn607Ile
NM_001282545.2:c.524A>T	NP_001269474.1:p.Asn175Ile
NM_001282548.2:c.467A>T	NP_001269477.1:p.Asn156Ile
NM_001282549.2:c.365-14585A>T	NP_001269478.1:n.365-14585A>T
NR_104212.2:n.1842A>T
NR_104215.2:n.1785A>T
NR_104216.2:n.1041A>T