Canonical Allele Identifier: CA431392623

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2730662
• ClinVar RCV Id: RCV003501615
• MyVariant Identifiers: chr2:g.215593496G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728772G>A , CM000664.2:g.214728772G>A	GRCh38
NC_000002.11:g.215593496G>A , CM000664.1:g.215593496G>A	GRCh37
NC_000002.10:g.215301741G>A	NCBI36
NG_012047.2:g.85933C>T
NG_012047.3:g.85940C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2238C>T MANE Select	ENSP00000260947.4:p.His746=
ENST00000421162.2:c.885C>T	ENSP00000392245.2:p.His295=
ENST00000613192.2:c.*301C>T	ENSP00000483275.2:n.*301C>T
ENST00000613374.5:c.828C>T	ENSP00000484464.1:p.His276=
ENST00000613706.5:c.1830C>T	ENSP00000484976.2:p.His610=
ENST00000617164.5:c.2181C>T	ENSP00000480470.1:p.His727=
ENST00000619009.5:c.699C>T	ENSP00000482293.1:p.His233=
ENST00000650978.1:c.3613C>T
ENST00000260947.8:c.2238C>T	ENSP00000260947.4:p.His746=
ENST00000432456.5:c.381C>T
ENST00000455743.5:c.*1858C>T	ENSP00000412186.1:n.*1858C>T
ENST00000471590.5:n.573C>T
ENST00000613192.1:c.408C>T	ENSP00000483275.1:p.His136=
ENST00000613374.4:c.828C>T	ENSP00000484464.1:p.His276=
ENST00000613706.4:c.885C>T	ENSP00000484976.1:p.His295=
ENST00000617164.4:c.2181C>T	ENSP00000480470.1:p.His727=
ENST00000619009.4:c.699C>T	ENSP00000482293.1:p.His233=
ENST00000620057.4:c.*904C>T	ENSP00000481988.1:n.*904C>T
NM_000465.3:c.2238C>T	NP_000456.2:p.His746=
NM_001282543.1:c.2181C>T	NP_001269472.1:p.His727=
NM_001282545.1:c.885C>T	NP_001269474.1:p.His295=
NM_001282548.1:c.828C>T	NP_001269477.1:p.His276=
NM_001282549.1:c.699C>T	NP_001269478.1:p.His233=
NR_104212.1:n.2231C>T
NR_104215.1:n.2174C>T
NR_104216.1:n.1430C>T
XM_011511567.1:c.2184C>T	XP_011509869.1:p.His728=
XM_017004613.1:c.2337C>T	XP_016860102.1:p.His779=
XR_002959322.1:n.2604C>T
NM_000465.4:c.2238C>T MANE Select	NP_000456.2:p.His746=
NM_001282543.2:c.2181C>T	NP_001269472.1:p.His727=
NM_001282545.2:c.885C>T	NP_001269474.1:p.His295=
NM_001282548.2:c.828C>T	NP_001269477.1:p.His276=
NM_001282549.2:c.699C>T	NP_001269478.1:p.His233=
NR_104212.2:n.2203C>T
NR_104215.2:n.2146C>T
NR_104216.2:n.1402C>T