Canonical Allele Identifier: CA350449948

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2662182
• ClinVar RCV Id: RCV003443677
• MyVariant Identifiers: chr2:g.215593463C>G (hg19) ; chr2:g.214728739C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728739C>G , CM000664.2:g.214728739C>G	GRCh38
NC_000002.11:g.215593463C>G , CM000664.1:g.215593463C>G	GRCh37
NC_000002.10:g.215301708C>G	NCBI36
NG_012047.2:g.85966G>C
NG_012047.3:g.85973G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2271G>C MANE Select	ENSP00000260947.4:p.Lys757Asn
ENST00000421162.2:c.918G>C	ENSP00000392245.2:p.Lys306Asn
ENST00000613192.2:c.*334G>C	ENSP00000483275.2:n.*334G>C
ENST00000613374.5:c.861G>C	ENSP00000484464.1:p.Lys287Asn
ENST00000613706.5:c.1863G>C	ENSP00000484976.2:p.Lys621Asn
ENST00000617164.5:c.2214G>C	ENSP00000480470.1:p.Lys738Asn
ENST00000619009.5:c.732G>C	ENSP00000482293.1:p.Lys244Asn
ENST00000650978.1:c.3646G>C
ENST00000260947.8:c.2271G>C	ENSP00000260947.4:p.Lys757Asn
ENST00000432456.5:c.414G>C
ENST00000455743.5:c.*1891G>C	ENSP00000412186.1:n.*1891G>C
ENST00000471590.5:n.606G>C
ENST00000613192.1:c.441G>C	ENSP00000483275.1:p.Lys147Asn
ENST00000613374.4:c.861G>C	ENSP00000484464.1:p.Lys287Asn
ENST00000613706.4:c.918G>C	ENSP00000484976.1:p.Lys306Asn
ENST00000617164.4:c.2214G>C	ENSP00000480470.1:p.Lys738Asn
ENST00000619009.4:c.732G>C	ENSP00000482293.1:p.Lys244Asn
ENST00000620057.4:c.*937G>C	ENSP00000481988.1:n.*937G>C
NM_000465.3:c.2271G>C	NP_000456.2:p.Lys757Asn
NM_001282543.1:c.2214G>C	NP_001269472.1:p.Lys738Asn
NM_001282545.1:c.918G>C	NP_001269474.1:p.Lys306Asn
NM_001282548.1:c.861G>C	NP_001269477.1:p.Lys287Asn
NM_001282549.1:c.732G>C	NP_001269478.1:p.Lys244Asn
NR_104212.1:n.2264G>C
NR_104215.1:n.2207G>C
NR_104216.1:n.1463G>C
XM_011511567.1:c.2217G>C	XP_011509869.1:p.Lys739Asn
XM_017004613.1:c.2370G>C	XP_016860102.1:p.Lys790Asn
XR_002959322.1:n.2637G>C
NM_000465.4:c.2271G>C MANE Select	NP_000456.2:p.Lys757Asn
NM_001282543.2:c.2214G>C	NP_001269472.1:p.Lys738Asn
NM_001282545.2:c.918G>C	NP_001269474.1:p.Lys306Asn
NM_001282548.2:c.861G>C	NP_001269477.1:p.Lys287Asn
NM_001282549.2:c.732G>C	NP_001269478.1:p.Lys244Asn
NR_104212.2:n.2236G>C
NR_104215.2:n.2179G>C
NR_104216.2:n.1435G>C