Canonical Allele Identifier: CA431392604

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593460A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728736A>T , CM000664.2:g.214728736A>T	GRCh38
NC_000002.11:g.215593460A>T , CM000664.1:g.215593460A>T	GRCh37
NC_000002.10:g.215301705A>T	NCBI36
NG_012047.2:g.85969T>A
NG_012047.3:g.85976T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2274T>A MANE Select	ENSP00000260947.4:p.Ala758=
ENST00000421162.2:c.921T>A	ENSP00000392245.2:p.Ala307=
ENST00000613192.2:c.*337T>A	ENSP00000483275.2:n.*337T>A
ENST00000613374.5:c.864T>A	ENSP00000484464.1:p.Ala288=
ENST00000613706.5:c.1866T>A	ENSP00000484976.2:p.Ala622=
ENST00000617164.5:c.2217T>A	ENSP00000480470.1:p.Ala739=
ENST00000619009.5:c.735T>A	ENSP00000482293.1:p.Ala245=
ENST00000650978.1:c.3649T>A
ENST00000260947.8:c.2274T>A	ENSP00000260947.4:p.Ala758=
ENST00000432456.5:c.417T>A
ENST00000455743.5:c.*1894T>A	ENSP00000412186.1:n.*1894T>A
ENST00000471590.5:n.609T>A
ENST00000613192.1:c.444T>A	ENSP00000483275.1:p.Ala148=
ENST00000613374.4:c.864T>A	ENSP00000484464.1:p.Ala288=
ENST00000613706.4:c.921T>A	ENSP00000484976.1:p.Ala307=
ENST00000617164.4:c.2217T>A	ENSP00000480470.1:p.Ala739=
ENST00000619009.4:c.735T>A	ENSP00000482293.1:p.Ala245=
ENST00000620057.4:c.*940T>A	ENSP00000481988.1:n.*940T>A
NM_000465.3:c.2274T>A	NP_000456.2:p.Ala758=
NM_001282543.1:c.2217T>A	NP_001269472.1:p.Ala739=
NM_001282545.1:c.921T>A	NP_001269474.1:p.Ala307=
NM_001282548.1:c.864T>A	NP_001269477.1:p.Ala288=
NM_001282549.1:c.735T>A	NP_001269478.1:p.Ala245=
NR_104212.1:n.2267T>A
NR_104215.1:n.2210T>A
NR_104216.1:n.1466T>A
XM_011511567.1:c.2220T>A	XP_011509869.1:p.Ala740=
XM_017004613.1:c.2373T>A	XP_016860102.1:p.Ala791=
XR_002959322.1:n.2640T>A
NM_000465.4:c.2274T>A MANE Select	NP_000456.2:p.Ala758=
NM_001282543.2:c.2217T>A	NP_001269472.1:p.Ala739=
NM_001282545.2:c.921T>A	NP_001269474.1:p.Ala307=
NM_001282548.2:c.864T>A	NP_001269477.1:p.Ala288=
NM_001282549.2:c.735T>A	NP_001269478.1:p.Ala245=
NR_104212.2:n.2239T>A
NR_104215.2:n.2182T>A
NR_104216.2:n.1438T>A