Canonical Allele Identifier: CA431139229

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595168A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730444A>G , CM000664.2:g.214730444A>G	GRCh38
NC_000002.11:g.215595168A>G , CM000664.1:g.215595168A>G	GRCh37
NC_000002.10:g.215303413A>G	NCBI36
NG_012047.2:g.84261T>C
NG_012047.3:g.84268T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1968T>C MANE Select	ENSP00000260947.4:p.Gly656=
ENST00000421162.2:c.615T>C	ENSP00000392245.2:p.Gly205=
ENST00000613192.2:c.*31T>C	ENSP00000483275.2:n.*31T>C
ENST00000613374.5:c.558T>C	ENSP00000484464.1:p.Gly186=
ENST00000613706.5:c.1560T>C	ENSP00000484976.2:p.Gly520=
ENST00000617164.5:c.1911T>C	ENSP00000480470.1:p.Gly637=
ENST00000619009.5:c.429T>C	ENSP00000482293.1:p.Gly143=
ENST00000650978.1:c.3343T>C
ENST00000260947.8:c.1968T>C	ENSP00000260947.4:p.Gly656=
ENST00000421162.1:c.615T>C	ENSP00000392245.1:p.Gly205=
ENST00000432456.5:c.65T>C
ENST00000455743.5:c.*1588T>C	ENSP00000412186.1:n.*1588T>C
ENST00000471590.5:n.303T>C
ENST00000613192.1:c.138T>C	ENSP00000483275.1:p.Gly46=
ENST00000613374.4:c.558T>C	ENSP00000484464.1:p.Gly186=
ENST00000613706.4:c.615T>C	ENSP00000484976.1:p.Gly205=
ENST00000617164.4:c.1911T>C	ENSP00000480470.1:p.Gly637=
ENST00000619009.4:c.429T>C	ENSP00000482293.1:p.Gly143=
ENST00000620057.4:c.*634T>C	ENSP00000481988.1:n.*634T>C
NM_000465.3:c.1968T>C	NP_000456.2:p.Gly656=
NM_001282543.1:c.1911T>C	NP_001269472.1:p.Gly637=
NM_001282545.1:c.615T>C	NP_001269474.1:p.Gly205=
NM_001282548.1:c.558T>C	NP_001269477.1:p.Gly186=
NM_001282549.1:c.429T>C	NP_001269478.1:p.Gly143=
NR_104212.1:n.1961T>C
NR_104215.1:n.1904T>C
NR_104216.1:n.1160T>C
XM_011511567.1:c.1914T>C	XP_011509869.1:p.Gly638=
XM_017004613.1:c.2067T>C	XP_016860102.1:p.Gly689=
XR_002959322.1:n.2158T>C
NM_000465.4:c.1968T>C MANE Select	NP_000456.2:p.Gly656=
NM_001282543.2:c.1911T>C	NP_001269472.1:p.Gly637=
NM_001282545.2:c.615T>C	NP_001269474.1:p.Gly205=
NM_001282548.2:c.558T>C	NP_001269477.1:p.Gly186=
NM_001282549.2:c.429T>C	NP_001269478.1:p.Gly143=
NR_104212.2:n.1933T>C
NR_104215.2:n.1876T>C
NR_104216.2:n.1132T>C