Canonical Allele Identifier: CA431392362

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593409A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728685A>T , CM000664.2:g.214728685A>T	GRCh38
NC_000002.11:g.215593409A>T , CM000664.1:g.215593409A>T	GRCh37
NC_000002.10:g.215301654A>T	NCBI36
NG_012047.2:g.86020T>A
NG_012047.3:g.86027T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2325T>A MANE Select	ENSP00000260947.4:p.Leu775=
ENST00000421162.2:c.972T>A	ENSP00000392245.2:p.Leu324=
ENST00000613192.2:c.*388T>A	ENSP00000483275.2:n.*388T>A
ENST00000613374.5:c.915T>A	ENSP00000484464.1:p.Leu305=
ENST00000613706.5:c.1917T>A	ENSP00000484976.2:p.Leu639=
ENST00000617164.5:c.2268T>A	ENSP00000480470.1:p.Leu756=
ENST00000619009.5:c.786T>A	ENSP00000482293.1:p.Leu262=
ENST00000650978.1:c.3700T>A
ENST00000260947.8:c.2325T>A	ENSP00000260947.4:p.Leu775=
ENST00000432456.5:c.468T>A
ENST00000471590.5:n.660T>A
ENST00000613192.1:c.495T>A	ENSP00000483275.1:p.Leu165=
ENST00000613374.4:c.915T>A	ENSP00000484464.1:p.Leu305=
ENST00000613706.4:c.972T>A	ENSP00000484976.1:p.Leu324=
ENST00000617164.4:c.2268T>A	ENSP00000480470.1:p.Leu756=
ENST00000619009.4:c.786T>A	ENSP00000482293.1:p.Leu262=
ENST00000620057.4:c.*991T>A	ENSP00000481988.1:n.*991T>A
NM_000465.3:c.2325T>A	NP_000456.2:p.Leu775=
NM_001282543.1:c.2268T>A	NP_001269472.1:p.Leu756=
NM_001282545.1:c.972T>A	NP_001269474.1:p.Leu324=
NM_001282548.1:c.915T>A	NP_001269477.1:p.Leu305=
NM_001282549.1:c.786T>A	NP_001269478.1:p.Leu262=
NR_104212.1:n.2318T>A
NR_104215.1:n.2261T>A
NR_104216.1:n.1517T>A
XM_011511567.1:c.2271T>A	XP_011509869.1:p.Leu757=
XM_017004613.1:c.2424T>A	XP_016860102.1:p.Leu808=
XR_002959322.1:n.2691T>A
NM_000465.4:c.2325T>A MANE Select	NP_000456.2:p.Leu775=
NM_001282543.2:c.2268T>A	NP_001269472.1:p.Leu756=
NM_001282545.2:c.972T>A	NP_001269474.1:p.Leu324=
NM_001282548.2:c.915T>A	NP_001269477.1:p.Leu305=
NM_001282549.2:c.786T>A	NP_001269478.1:p.Leu262=
NR_104212.2:n.2290T>A
NR_104215.2:n.2233T>A
NR_104216.2:n.1489T>A