Canonical Allele Identifier: CA64793735

Gene: BARD1

Linked Data

• ClinVar Variation Id: 489663
• ClinVar RCV Id: RCV000581049 ; RCV000707059
• dbSNP Id: rs187590361
• gnomAD v2: 2-215595148-T-C
• gnomAD v3: 2-214730424-T-C
• gnomAD v4: 2-214730424-T-C
• MyVariant Identifiers: chr2:g.215595148T>C (hg19) ; chr2:g.214730424T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730424T>C , CM000664.2:g.214730424T>C	GRCh38
NC_000002.11:g.215595148T>C , CM000664.1:g.215595148T>C	GRCh37
NC_000002.10:g.215303393T>C	NCBI36
NG_012047.2:g.84281A>G
NG_012047.3:g.84288A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1988A>G MANE Select	ENSP00000260947.4:p.Asn663Ser
ENST00000421162.2:c.635A>G	ENSP00000392245.2:p.Asn212Ser
ENST00000613192.2:c.*51A>G	ENSP00000483275.2:n.*51A>G
ENST00000613374.5:c.578A>G	ENSP00000484464.1:p.Asn193Ser
ENST00000613706.5:c.1580A>G	ENSP00000484976.2:p.Asn527Ser
ENST00000617164.5:c.1931A>G	ENSP00000480470.1:p.Asn644Ser
ENST00000619009.5:c.449A>G	ENSP00000482293.1:p.Asn150Ser
ENST00000650978.1:c.3363A>G
ENST00000260947.8:c.1988A>G	ENSP00000260947.4:p.Asn663Ser
ENST00000421162.1:c.635A>G	ENSP00000392245.1:p.Asn212Ser
ENST00000432456.5:c.85A>G
ENST00000455743.5:c.*1608A>G	ENSP00000412186.1:n.*1608A>G
ENST00000471590.5:n.323A>G
ENST00000613192.1:c.158A>G	ENSP00000483275.1:p.Asn53Ser
ENST00000613374.4:c.578A>G	ENSP00000484464.1:p.Asn193Ser
ENST00000613706.4:c.635A>G	ENSP00000484976.1:p.Asn212Ser
ENST00000617164.4:c.1931A>G	ENSP00000480470.1:p.Asn644Ser
ENST00000619009.4:c.449A>G	ENSP00000482293.1:p.Asn150Ser
ENST00000620057.4:c.*654A>G	ENSP00000481988.1:n.*654A>G
NM_000465.3:c.1988A>G	NP_000456.2:p.Asn663Ser
NM_001282543.1:c.1931A>G	NP_001269472.1:p.Asn644Ser
NM_001282545.1:c.635A>G	NP_001269474.1:p.Asn212Ser
NM_001282548.1:c.578A>G	NP_001269477.1:p.Asn193Ser
NM_001282549.1:c.449A>G	NP_001269478.1:p.Asn150Ser
NR_104212.1:n.1981A>G
NR_104215.1:n.1924A>G
NR_104216.1:n.1180A>G
XM_011511567.1:c.1934A>G	XP_011509869.1:p.Asn645Ser
XM_017004613.1:c.2087A>G	XP_016860102.1:p.Asn696Ser
XR_002959322.1:n.2178A>G
NM_000465.4:c.1988A>G MANE Select	NP_000456.2:p.Asn663Ser
NM_001282543.2:c.1931A>G	NP_001269472.1:p.Asn644Ser
NM_001282545.2:c.635A>G	NP_001269474.1:p.Asn212Ser
NM_001282548.2:c.578A>G	NP_001269477.1:p.Asn193Ser
NM_001282549.2:c.449A>G	NP_001269478.1:p.Asn150Ser
NR_104212.2:n.1953A>G
NR_104215.2:n.1896A>G
NR_104216.2:n.1152A>G