Canonical Allele Identifier: CA169578

Gene: BARD1

Linked Data

• ClinVar Variation Id: 142852
• ClinVar RCV Id: RCV000132295 ; RCV001849946
• dbSNP Id: rs587782767
• MyVariant Identifiers: chr2:g.215595147G>T (hg19) ; chr2:g.214730423G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730423G>T , CM000664.2:g.214730423G>T	GRCh38
NC_000002.11:g.215595147G>T , CM000664.1:g.215595147G>T	GRCh37
NC_000002.10:g.215303392G>T	NCBI36
NG_012047.2:g.84282C>A
NG_012047.3:g.84289C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1989C>A MANE Select	ENSP00000260947.4:p.Asn663Lys
ENST00000421162.2:c.636C>A	ENSP00000392245.2:p.Asn212Lys
ENST00000613192.2:c.*52C>A	ENSP00000483275.2:n.*52C>A
ENST00000613374.5:c.579C>A	ENSP00000484464.1:p.Asn193Lys
ENST00000613706.5:c.1581C>A	ENSP00000484976.2:p.Asn527Lys
ENST00000617164.5:c.1932C>A	ENSP00000480470.1:p.Asn644Lys
ENST00000619009.5:c.450C>A	ENSP00000482293.1:p.Asn150Lys
ENST00000650978.1:c.3364C>A
ENST00000260947.8:c.1989C>A	ENSP00000260947.4:p.Asn663Lys
ENST00000421162.1:c.636C>A	ENSP00000392245.1:p.Asn212Lys
ENST00000432456.5:c.86C>A
ENST00000455743.5:c.*1609C>A	ENSP00000412186.1:n.*1609C>A
ENST00000471590.5:n.324C>A
ENST00000613192.1:c.159C>A	ENSP00000483275.1:p.Asn53Lys
ENST00000613374.4:c.579C>A	ENSP00000484464.1:p.Asn193Lys
ENST00000613706.4:c.636C>A	ENSP00000484976.1:p.Asn212Lys
ENST00000617164.4:c.1932C>A	ENSP00000480470.1:p.Asn644Lys
ENST00000619009.4:c.450C>A	ENSP00000482293.1:p.Asn150Lys
ENST00000620057.4:c.*655C>A	ENSP00000481988.1:n.*655C>A
NM_000465.3:c.1989C>A	NP_000456.2:p.Asn663Lys
NM_001282543.1:c.1932C>A	NP_001269472.1:p.Asn644Lys
NM_001282545.1:c.636C>A	NP_001269474.1:p.Asn212Lys
NM_001282548.1:c.579C>A	NP_001269477.1:p.Asn193Lys
NM_001282549.1:c.450C>A	NP_001269478.1:p.Asn150Lys
NR_104212.1:n.1982C>A
NR_104215.1:n.1925C>A
NR_104216.1:n.1181C>A
XM_011511567.1:c.1935C>A	XP_011509869.1:p.Asn645Lys
XM_017004613.1:c.2088C>A	XP_016860102.1:p.Asn696Lys
XR_002959322.1:n.2179C>A
NM_000465.4:c.1989C>A MANE Select	NP_000456.2:p.Asn663Lys
NM_001282543.2:c.1932C>A	NP_001269472.1:p.Asn644Lys
NM_001282545.2:c.636C>A	NP_001269474.1:p.Asn212Lys
NM_001282548.2:c.579C>A	NP_001269477.1:p.Asn193Lys
NM_001282549.2:c.450C>A	NP_001269478.1:p.Asn150Lys
NR_104212.2:n.1954C>A
NR_104215.2:n.1897C>A
NR_104216.2:n.1153C>A