Canonical Allele Identifier: CA350451096

Gene: BARD1

Linked Data

• gnomAD v4: 2-214730417-T-G
• MyVariant Identifiers: chr2:g.215595141T>G (hg19) ; chr2:g.214730417T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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