Canonical Allele Identifier: CA350451148

Gene: BARD1

Linked Data

• gnomAD v4: 2-214730447-T-G
• MyVariant Identifiers: chr2:g.215595171T>G (hg19) ; chr2:g.214730447T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730447T>G , CM000664.2:g.214730447T>G	GRCh38
NC_000002.11:g.215595171T>G , CM000664.1:g.215595171T>G	GRCh37
NC_000002.10:g.215303416T>G	NCBI36
NG_012047.2:g.84258A>C
NG_012047.3:g.84265A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1965A>C MANE Select	ENSP00000260947.4:p.Glu655Asp
ENST00000421162.2:c.612A>C	ENSP00000392245.2:p.Glu204Asp
ENST00000613192.2:c.*28A>C	ENSP00000483275.2:n.*28A>C
ENST00000613374.5:c.555A>C	ENSP00000484464.1:p.Glu185Asp
ENST00000613706.5:c.1557A>C	ENSP00000484976.2:p.Glu519Asp
ENST00000617164.5:c.1908A>C	ENSP00000480470.1:p.Glu636Asp
ENST00000619009.5:c.426A>C	ENSP00000482293.1:p.Glu142Asp
ENST00000650978.1:c.3340A>C
ENST00000260947.8:c.1965A>C	ENSP00000260947.4:p.Glu655Asp
ENST00000421162.1:c.612A>C	ENSP00000392245.1:p.Glu204Asp
ENST00000432456.5:c.62A>C
ENST00000455743.5:c.*1585A>C	ENSP00000412186.1:n.*1585A>C
ENST00000471590.5:n.300A>C
ENST00000613192.1:c.135A>C	ENSP00000483275.1:p.Glu45Asp
ENST00000613374.4:c.555A>C	ENSP00000484464.1:p.Glu185Asp
ENST00000613706.4:c.612A>C	ENSP00000484976.1:p.Glu204Asp
ENST00000617164.4:c.1908A>C	ENSP00000480470.1:p.Glu636Asp
ENST00000619009.4:c.426A>C	ENSP00000482293.1:p.Glu142Asp
ENST00000620057.4:c.*631A>C	ENSP00000481988.1:n.*631A>C
NM_000465.3:c.1965A>C	NP_000456.2:p.Glu655Asp
NM_001282543.1:c.1908A>C	NP_001269472.1:p.Glu636Asp
NM_001282545.1:c.612A>C	NP_001269474.1:p.Glu204Asp
NM_001282548.1:c.555A>C	NP_001269477.1:p.Glu185Asp
NM_001282549.1:c.426A>C	NP_001269478.1:p.Glu142Asp
NR_104212.1:n.1958A>C
NR_104215.1:n.1901A>C
NR_104216.1:n.1157A>C
XM_011511567.1:c.1911A>C	XP_011509869.1:p.Glu637Asp
XM_017004613.1:c.2064A>C	XP_016860102.1:p.Glu688Asp
XR_002959322.1:n.2155A>C
NM_000465.4:c.1965A>C MANE Select	NP_000456.2:p.Glu655Asp
NM_001282543.2:c.1908A>C	NP_001269472.1:p.Glu636Asp
NM_001282545.2:c.612A>C	NP_001269474.1:p.Glu204Asp
NM_001282548.2:c.555A>C	NP_001269477.1:p.Glu185Asp
NM_001282549.2:c.426A>C	NP_001269478.1:p.Glu142Asp
NR_104212.2:n.1930A>C
NR_104215.2:n.1873A>C
NR_104216.2:n.1129A>C