Canonical Allele Identifier: CA350451097

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595142T>G (hg19) ; chr2:g.214730418T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730418T>G , CM000664.2:g.214730418T>G	GRCh38
NC_000002.11:g.215595142T>G , CM000664.1:g.215595142T>G	GRCh37
NC_000002.10:g.215303387T>G	NCBI36
NG_012047.2:g.84287A>C
NG_012047.3:g.84294A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1994A>C MANE Select	ENSP00000260947.4:p.Glu665Ala
ENST00000421162.2:c.641A>C	ENSP00000392245.2:p.Glu214Ala
ENST00000613192.2:c.*57A>C	ENSP00000483275.2:n.*57A>C
ENST00000613374.5:c.584A>C	ENSP00000484464.1:p.Glu195Ala
ENST00000613706.5:c.1586A>C	ENSP00000484976.2:p.Glu529Ala
ENST00000617164.5:c.1937A>C	ENSP00000480470.1:p.Glu646Ala
ENST00000619009.5:c.455A>C	ENSP00000482293.1:p.Glu152Ala
ENST00000650978.1:c.3369A>C
ENST00000260947.8:c.1994A>C	ENSP00000260947.4:p.Glu665Ala
ENST00000421162.1:c.641A>C	ENSP00000392245.1:p.Glu214Ala
ENST00000432456.5:c.91A>C
ENST00000455743.5:c.*1614A>C	ENSP00000412186.1:n.*1614A>C
ENST00000471590.5:n.329A>C
ENST00000613192.1:c.164A>C	ENSP00000483275.1:p.Glu55Ala
ENST00000613374.4:c.584A>C	ENSP00000484464.1:p.Glu195Ala
ENST00000613706.4:c.641A>C	ENSP00000484976.1:p.Glu214Ala
ENST00000617164.4:c.1937A>C	ENSP00000480470.1:p.Glu646Ala
ENST00000619009.4:c.455A>C	ENSP00000482293.1:p.Glu152Ala
ENST00000620057.4:c.*660A>C	ENSP00000481988.1:n.*660A>C
NM_000465.3:c.1994A>C	NP_000456.2:p.Glu665Ala
NM_001282543.1:c.1937A>C	NP_001269472.1:p.Glu646Ala
NM_001282545.1:c.641A>C	NP_001269474.1:p.Glu214Ala
NM_001282548.1:c.584A>C	NP_001269477.1:p.Glu195Ala
NM_001282549.1:c.455A>C	NP_001269478.1:p.Glu152Ala
NR_104212.1:n.1987A>C
NR_104215.1:n.1930A>C
NR_104216.1:n.1186A>C
XM_011511567.1:c.1940A>C	XP_011509869.1:p.Glu647Ala
XM_017004613.1:c.2093A>C	XP_016860102.1:p.Glu698Ala
XR_002959322.1:n.2184A>C
NM_000465.4:c.1994A>C MANE Select	NP_000456.2:p.Glu665Ala
NM_001282543.2:c.1937A>C	NP_001269472.1:p.Glu646Ala
NM_001282545.2:c.641A>C	NP_001269474.1:p.Glu214Ala
NM_001282548.2:c.584A>C	NP_001269477.1:p.Glu195Ala
NM_001282549.2:c.455A>C	NP_001269478.1:p.Glu152Ala
NR_104212.2:n.1959A>C
NR_104215.2:n.1902A>C
NR_104216.2:n.1158A>C