Canonical Allele Identifier: CA431392605

Gene: BARD1

Linked Data

• ClinVar Variation Id: 761668
• ClinVar RCV Id: RCV001419391 ; RCV002445076
• dbSNP Id: rs1064796724
• MyVariant Identifiers: chr2:g.215593463C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2271G>A MANE Select	ENSP00000260947.4:p.Lys757=
ENST00000421162.2:c.918G>A	ENSP00000392245.2:p.Lys306=
ENST00000613192.2:c.*334G>A	ENSP00000483275.2:n.*334G>A
ENST00000613374.5:c.861G>A	ENSP00000484464.1:p.Lys287=
ENST00000613706.5:c.1863G>A	ENSP00000484976.2:p.Lys621=
ENST00000617164.5:c.2214G>A	ENSP00000480470.1:p.Lys738=
ENST00000619009.5:c.732G>A	ENSP00000482293.1:p.Lys244=
ENST00000650978.1:c.3646G>A
ENST00000260947.8:c.2271G>A	ENSP00000260947.4:p.Lys757=
ENST00000432456.5:c.414G>A
ENST00000455743.5:c.*1891G>A	ENSP00000412186.1:n.*1891G>A
ENST00000471590.5:n.606G>A
ENST00000613192.1:c.441G>A	ENSP00000483275.1:p.Lys147=
ENST00000613374.4:c.861G>A	ENSP00000484464.1:p.Lys287=
ENST00000613706.4:c.918G>A	ENSP00000484976.1:p.Lys306=
ENST00000617164.4:c.2214G>A	ENSP00000480470.1:p.Lys738=
ENST00000619009.4:c.732G>A	ENSP00000482293.1:p.Lys244=
ENST00000620057.4:c.*937G>A	ENSP00000481988.1:n.*937G>A
NM_000465.3:c.2271G>A	NP_000456.2:p.Lys757=
NM_001282543.1:c.2214G>A	NP_001269472.1:p.Lys738=
NM_001282545.1:c.918G>A	NP_001269474.1:p.Lys306=
NM_001282548.1:c.861G>A	NP_001269477.1:p.Lys287=
NM_001282549.1:c.732G>A	NP_001269478.1:p.Lys244=
NR_104212.1:n.2264G>A
NR_104215.1:n.2207G>A
NR_104216.1:n.1463G>A
XM_011511567.1:c.2217G>A	XP_011509869.1:p.Lys739=
XM_017004613.1:c.2370G>A	XP_016860102.1:p.Lys790=
XR_002959322.1:n.2637G>A
NM_000465.4:c.2271G>A MANE Select	NP_000456.2:p.Lys757=
NM_001282543.2:c.2214G>A	NP_001269472.1:p.Lys738=
NM_001282545.2:c.918G>A	NP_001269474.1:p.Lys306=
NM_001282548.2:c.861G>A	NP_001269477.1:p.Lys287=
NM_001282549.2:c.732G>A	NP_001269478.1:p.Lys244=
NR_104212.2:n.2236G>A
NR_104215.2:n.2179G>A
NR_104216.2:n.1435G>A