Canonical Allele Identifier: CA350455065

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2707535
• ClinVar RCV Id: RCV003501245
• MyVariant Identifiers: chr2:g.215617278T>C (hg19) ; chr2:g.214752554T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752554T>C , CM000664.2:g.214752554T>C	GRCh38
NC_000002.11:g.215617278T>C , CM000664.1:g.215617278T>C	GRCh37
NC_000002.10:g.215325523T>C	NCBI36
NG_012047.2:g.62151A>G
NG_012047.3:g.62158A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1570A>G MANE Select	ENSP00000260947.4:p.Asn524Asp
ENST00000421162.2:c.217A>G	ENSP00000392245.2:p.Asn73Asp
ENST00000613192.2:c.159-22046A>G	ENSP00000483275.2:n.159-22046A>G
ENST00000613374.5:c.160A>G	ENSP00000484464.1:p.Asn54Asp
ENST00000613706.5:c.1162A>G	ENSP00000484976.2:p.Asn388Asp
ENST00000617164.5:c.1513A>G	ENSP00000480470.1:p.Asn505Asp
ENST00000619009.5:c.365-22046A>G	ENSP00000482293.1:n.365-22046A>G
ENST00000650978.1:c.2945A>G
ENST00000260947.8:c.1570A>G	ENSP00000260947.4:p.Asn524Asp
ENST00000421162.1:c.217A>G	ENSP00000392245.1:p.Asn73Asp
ENST00000455743.5:c.*1190A>G	ENSP00000412186.1:n.*1190A>G
ENST00000613192.1:c.74-22046A>G	ENSP00000483275.1:n.74-22046A>G
ENST00000613374.4:c.160A>G	ENSP00000484464.1:p.Asn54Asp
ENST00000613706.4:c.217A>G	ENSP00000484976.1:p.Asn73Asp
ENST00000617164.4:c.1513A>G	ENSP00000480470.1:p.Asn505Asp
ENST00000619009.4:c.365-22046A>G	ENSP00000482293.1:n.365-22046A>G
ENST00000620057.4:c.*236A>G	ENSP00000481988.1:n.*236A>G
NM_000465.3:c.1570A>G	NP_000456.2:p.Asn524Asp
NM_001282543.1:c.1513A>G	NP_001269472.1:p.Asn505Asp
NM_001282545.1:c.217A>G	NP_001269474.1:p.Asn73Asp
NM_001282548.1:c.160A>G	NP_001269477.1:p.Asn54Asp
NM_001282549.1:c.365-22046A>G	NP_001269478.1:n.365-22046A>G
NR_104212.1:n.1563A>G
NR_104215.1:n.1506A>G
NR_104216.1:n.762A>G
XM_011511567.1:c.1516A>G	XP_011509869.1:p.Asn506Asp
XM_011511568.1:c.1570A>G	XP_011509870.1:p.Asn524Asp
XM_017004613.1:c.1669A>G	XP_016860102.1:p.Asn557Asp
XM_017004614.1:c.1669A>G	XP_016860103.1:p.Asn557Asp
XR_002959322.1:n.1760A>G
NM_000465.4:c.1570A>G MANE Select	NP_000456.2:p.Asn524Asp
NM_001282543.2:c.1513A>G	NP_001269472.1:p.Asn505Asp
NM_001282545.2:c.217A>G	NP_001269474.1:p.Asn73Asp
NM_001282548.2:c.160A>G	NP_001269477.1:p.Asn54Asp
NM_001282549.2:c.365-22046A>G	NP_001269478.1:n.365-22046A>G
NR_104212.2:n.1535A>G
NR_104215.2:n.1478A>G
NR_104216.2:n.734A>G