Canonical Allele Identifier: CA350451303

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1437154
• ClinVar RCV Id: RCV001962762 ; RCV002407125
• dbSNP Id: rs2105990862
• MyVariant Identifiers: chr2:g.215595220C>T (hg19) ; chr2:g.214730496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730496C>T , CM000664.2:g.214730496C>T	GRCh38
NC_000002.11:g.215595220C>T , CM000664.1:g.215595220C>T	GRCh37
NC_000002.10:g.215303465C>T	NCBI36
NG_012047.2:g.84209G>A
NG_012047.3:g.84216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1916G>A MANE Select	ENSP00000260947.4:p.Cys639Tyr
ENST00000421162.2:c.563G>A	ENSP00000392245.2:p.Cys188Tyr
ENST00000613192.2:c.171G>A	ENSP00000483275.2:p.Met57Ile
ENST00000613374.5:c.506G>A	ENSP00000484464.1:p.Cys169Tyr
ENST00000613706.5:c.1508G>A	ENSP00000484976.2:p.Cys503Tyr
ENST00000617164.5:c.1859G>A	ENSP00000480470.1:p.Cys620Tyr
ENST00000619009.5:c.377G>A	ENSP00000482293.1:p.Cys126Tyr
ENST00000650978.1:c.3291G>A
ENST00000260947.8:c.1916G>A	ENSP00000260947.4:p.Cys639Tyr
ENST00000421162.1:c.563G>A	ENSP00000392245.1:p.Cys188Tyr
ENST00000432456.5:c.13G>A
ENST00000455743.5:c.*1536G>A	ENSP00000412186.1:n.*1536G>A
ENST00000471590.5:n.251G>A
ENST00000613192.1:c.86G>A	ENSP00000483275.1:p.Cys29Tyr
ENST00000613374.4:c.506G>A	ENSP00000484464.1:p.Cys169Tyr
ENST00000613706.4:c.563G>A	ENSP00000484976.1:p.Cys188Tyr
ENST00000617164.4:c.1859G>A	ENSP00000480470.1:p.Cys620Tyr
ENST00000619009.4:c.377G>A	ENSP00000482293.1:p.Cys126Tyr
ENST00000620057.4:c.*582G>A	ENSP00000481988.1:n.*582G>A
NM_000465.3:c.1916G>A	NP_000456.2:p.Cys639Tyr
NM_001282543.1:c.1859G>A	NP_001269472.1:p.Cys620Tyr
NM_001282545.1:c.563G>A	NP_001269474.1:p.Cys188Tyr
NM_001282548.1:c.506G>A	NP_001269477.1:p.Cys169Tyr
NM_001282549.1:c.377G>A	NP_001269478.1:p.Cys126Tyr
NR_104212.1:n.1909G>A
NR_104215.1:n.1852G>A
NR_104216.1:n.1108G>A
XM_011511567.1:c.1862G>A	XP_011509869.1:p.Cys621Tyr
XM_017004613.1:c.2015G>A	XP_016860102.1:p.Cys672Tyr
XR_002959322.1:n.2106G>A
NM_000465.4:c.1916G>A MANE Select	NP_000456.2:p.Cys639Tyr
NM_001282543.2:c.1859G>A	NP_001269472.1:p.Cys620Tyr
NM_001282545.2:c.563G>A	NP_001269474.1:p.Cys188Tyr
NM_001282548.2:c.506G>A	NP_001269477.1:p.Cys169Tyr
NM_001282549.2:c.377G>A	NP_001269478.1:p.Cys126Tyr
NR_104212.2:n.1881G>A
NR_104215.2:n.1824G>A
NR_104216.2:n.1080G>A