Canonical Allele Identifier: CA350451223

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595199T>C (hg19) ; chr2:g.214730475T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730475T>C , CM000664.2:g.214730475T>C	GRCh38
NC_000002.11:g.215595199T>C , CM000664.1:g.215595199T>C	GRCh37
NC_000002.10:g.215303444T>C	NCBI36
NG_012047.2:g.84230A>G
NG_012047.3:g.84237A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1937A>G MANE Select	ENSP00000260947.4:p.Glu646Gly
ENST00000421162.2:c.584A>G	ENSP00000392245.2:p.Glu195Gly
ENST00000613192.2:c.192A>G	ENSP00000483275.2:p.Ter64Trp
ENST00000613374.5:c.527A>G	ENSP00000484464.1:p.Glu176Gly
ENST00000613706.5:c.1529A>G	ENSP00000484976.2:p.Glu510Gly
ENST00000617164.5:c.1880A>G	ENSP00000480470.1:p.Glu627Gly
ENST00000619009.5:c.398A>G	ENSP00000482293.1:p.Glu133Gly
ENST00000650978.1:c.3312A>G
ENST00000260947.8:c.1937A>G	ENSP00000260947.4:p.Glu646Gly
ENST00000421162.1:c.584A>G	ENSP00000392245.1:p.Glu195Gly
ENST00000432456.5:c.34A>G
ENST00000455743.5:c.*1557A>G	ENSP00000412186.1:n.*1557A>G
ENST00000471590.5:n.272A>G
ENST00000613192.1:c.107A>G	ENSP00000483275.1:p.Glu36Gly
ENST00000613374.4:c.527A>G	ENSP00000484464.1:p.Glu176Gly
ENST00000613706.4:c.584A>G	ENSP00000484976.1:p.Glu195Gly
ENST00000617164.4:c.1880A>G	ENSP00000480470.1:p.Glu627Gly
ENST00000619009.4:c.398A>G	ENSP00000482293.1:p.Glu133Gly
ENST00000620057.4:c.*603A>G	ENSP00000481988.1:n.*603A>G
NM_000465.3:c.1937A>G	NP_000456.2:p.Glu646Gly
NM_001282543.1:c.1880A>G	NP_001269472.1:p.Glu627Gly
NM_001282545.1:c.584A>G	NP_001269474.1:p.Glu195Gly
NM_001282548.1:c.527A>G	NP_001269477.1:p.Glu176Gly
NM_001282549.1:c.398A>G	NP_001269478.1:p.Glu133Gly
NR_104212.1:n.1930A>G
NR_104215.1:n.1873A>G
NR_104216.1:n.1129A>G
XM_011511567.1:c.1883A>G	XP_011509869.1:p.Glu628Gly
XM_017004613.1:c.2036A>G	XP_016860102.1:p.Glu679Gly
XR_002959322.1:n.2127A>G
NM_000465.4:c.1937A>G MANE Select	NP_000456.2:p.Glu646Gly
NM_001282543.2:c.1880A>G	NP_001269472.1:p.Glu627Gly
NM_001282545.2:c.584A>G	NP_001269474.1:p.Glu195Gly
NM_001282548.2:c.527A>G	NP_001269477.1:p.Glu176Gly
NM_001282549.2:c.398A>G	NP_001269478.1:p.Glu133Gly
NR_104212.2:n.1902A>G
NR_104215.2:n.1845A>G
NR_104216.2:n.1101A>G