Canonical Allele Identifier: CA350461027

Gene: BARD1

Linked Data

• ClinVar Variation Id: 490963
• ClinVar RCV Id: RCV000582138 ; RCV001860072
• dbSNP Id: rs763707275
• MyVariant Identifiers: chr2:g.215657092T>G (hg19) ; chr2:g.214792368T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792368T>G , CM000664.2:g.214792368T>G	GRCh38
NC_000002.11:g.215657092T>G , CM000664.1:g.215657092T>G	GRCh37
NC_000002.10:g.215365337T>G	NCBI36
NG_012047.2:g.22337A>C
NG_012047.3:g.22344A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.293A>C MANE Select	ENSP00000260947.4:p.Asn98Thr
ENST00000421162.2:c.215+4693A>C	ENSP00000392245.2:n.215+4693A>C
ENST00000613192.2:c.158+17044A>C	ENSP00000483275.2:n.158+17044A>C
ENST00000613374.5:c.158+17044A>C	ENSP00000484464.1:n.158+17044A>C
ENST00000613706.5:c.293A>C	ENSP00000484976.2:p.Asn98Thr
ENST00000617164.5:c.236A>C	ENSP00000480470.1:p.Asn79Thr
ENST00000619009.5:c.293A>C	ENSP00000482293.1:p.Asn98Thr
ENST00000650978.1:c.135A>C
ENST00000260947.8:c.293A>C	ENSP00000260947.4:p.Asn98Thr
ENST00000421162.1:c.215+4693A>C	ENSP00000392245.1:n.215+4693A>C
ENST00000455743.5:c.215+4693A>C	ENSP00000412186.1:n.215+4693A>C
ENST00000471787.1:n.260-10859A>C
ENST00000613192.1:c.73+17044A>C	ENSP00000483275.1:n.73+17044A>C
ENST00000613374.4:c.158+17044A>C	ENSP00000484464.1:n.158+17044A>C
ENST00000613706.4:c.215+4693A>C	ENSP00000484976.1:n.215+4693A>C
ENST00000617164.4:c.236A>C	ENSP00000480470.1:p.Asn79Thr
ENST00000619009.4:c.293A>C	ENSP00000482293.1:p.Asn98Thr
ENST00000620057.4:c.293A>C	ENSP00000481988.1:p.Asn98Thr
NM_000465.3:c.293A>C	NP_000456.2:p.Asn98Thr
NM_001282543.1:c.236A>C	NP_001269472.1:p.Asn79Thr
NM_001282545.1:c.215+4693A>C	NP_001269474.1:n.215+4693A>C
NM_001282548.1:c.158+17044A>C	NP_001269477.1:n.158+17044A>C
NM_001282549.1:c.293A>C	NP_001269478.1:p.Asn98Thr
NR_104212.1:n.357+4693A>C
NR_104215.1:n.301-10859A>C
NR_104216.1:n.435A>C
XM_011511567.1:c.239A>C	XP_011509869.1:p.Asn80Thr
XM_011511568.1:c.293A>C	XP_011509870.1:p.Asn98Thr
XM_017004613.1:c.392A>C	XP_016860102.1:p.Asn131Thr
XM_017004614.1:c.392A>C	XP_016860103.1:p.Asn131Thr
XR_002959322.1:n.483A>C
NM_000465.4:c.293A>C MANE Select	NP_000456.2:p.Asn98Thr
NM_001282543.2:c.236A>C	NP_001269472.1:p.Asn79Thr
NM_001282545.2:c.215+4693A>C	NP_001269474.1:n.215+4693A>C
NM_001282548.2:c.158+17044A>C	NP_001269477.1:n.158+17044A>C
NM_001282549.2:c.293A>C	NP_001269478.1:p.Asn98Thr
NR_104212.2:n.329+4693A>C
NR_104215.2:n.273-10859A>C
NR_104216.2:n.407A>C