Canonical Allele Identifier: CA350451095

Gene: BARD1

Linked Data

• dbSNP Id: rs2105990404
• COSMIC: COSN190795 ; COSM250848 ; COSM5348933
• MyVariant Identifiers: chr2:g.215595141T>A (hg19) ; chr2:g.214730417T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730417T>A , CM000664.2:g.214730417T>A	GRCh38
NC_000002.11:g.215595141T>A , CM000664.1:g.215595141T>A	GRCh37
NC_000002.10:g.215303386T>A	NCBI36
NG_012047.2:g.84288A>T
NG_012047.3:g.84295A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1995A>T MANE Select	ENSP00000260947.4:p.Glu665Asp
ENST00000421162.2:c.642A>T	ENSP00000392245.2:p.Glu214Asp
ENST00000613192.2:c.*58A>T	ENSP00000483275.2:n.*58A>T
ENST00000613374.5:c.585A>T	ENSP00000484464.1:p.Glu195Asp
ENST00000613706.5:c.1587A>T	ENSP00000484976.2:p.Glu529Asp
ENST00000617164.5:c.1938A>T	ENSP00000480470.1:p.Glu646Asp
ENST00000619009.5:c.456A>T	ENSP00000482293.1:p.Glu152Asp
ENST00000650978.1:c.3370A>T
ENST00000260947.8:c.1995A>T	ENSP00000260947.4:p.Glu665Asp
ENST00000421162.1:c.642A>T	ENSP00000392245.1:p.Glu214Asp
ENST00000432456.5:c.92A>T
ENST00000455743.5:c.*1615A>T	ENSP00000412186.1:n.*1615A>T
ENST00000471590.5:n.330A>T
ENST00000613192.1:c.165A>T	ENSP00000483275.1:p.Glu55Asp
ENST00000613374.4:c.585A>T	ENSP00000484464.1:p.Glu195Asp
ENST00000613706.4:c.642A>T	ENSP00000484976.1:p.Glu214Asp
ENST00000617164.4:c.1938A>T	ENSP00000480470.1:p.Glu646Asp
ENST00000619009.4:c.456A>T	ENSP00000482293.1:p.Glu152Asp
ENST00000620057.4:c.*661A>T	ENSP00000481988.1:n.*661A>T
NM_000465.3:c.1995A>T	NP_000456.2:p.Glu665Asp
NM_001282543.1:c.1938A>T	NP_001269472.1:p.Glu646Asp
NM_001282545.1:c.642A>T	NP_001269474.1:p.Glu214Asp
NM_001282548.1:c.585A>T	NP_001269477.1:p.Glu195Asp
NM_001282549.1:c.456A>T	NP_001269478.1:p.Glu152Asp
NR_104212.1:n.1988A>T
NR_104215.1:n.1931A>T
NR_104216.1:n.1187A>T
XM_011511567.1:c.1941A>T	XP_011509869.1:p.Glu647Asp
XM_017004613.1:c.2094A>T	XP_016860102.1:p.Glu698Asp
XR_002959322.1:n.2185A>T
NM_000465.4:c.1995A>T MANE Select	NP_000456.2:p.Glu665Asp
NM_001282543.2:c.1938A>T	NP_001269472.1:p.Glu646Asp
NM_001282545.2:c.642A>T	NP_001269474.1:p.Glu214Asp
NM_001282548.2:c.585A>T	NP_001269477.1:p.Glu195Asp
NM_001282549.2:c.456A>T	NP_001269478.1:p.Glu152Asp
NR_104212.2:n.1960A>T
NR_104215.2:n.1903A>T
NR_104216.2:n.1159A>T