Canonical Allele Identifier: CA350461331

Gene: BARD1

Linked Data

• ClinVar Variation Id: 649779
• ClinVar RCV Id: RCV000804789
• dbSNP Id: rs1574840055
• MyVariant Identifiers: chr2:g.215657165A>C (hg19) ; chr2:g.214792441A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792441A>C , CM000664.2:g.214792441A>C	GRCh38
NC_000002.11:g.215657165A>C , CM000664.1:g.215657165A>C	GRCh37
NC_000002.10:g.215365410A>C	NCBI36
NG_012047.2:g.22264T>G
NG_012047.3:g.22271T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.220T>G MANE Select	ENSP00000260947.4:p.Cys74Gly
ENST00000421162.2:c.215+4620T>G	ENSP00000392245.2:n.215+4620T>G
ENST00000613192.2:c.158+16971T>G	ENSP00000483275.2:n.158+16971T>G
ENST00000613374.5:c.158+16971T>G	ENSP00000484464.1:n.158+16971T>G
ENST00000613706.5:c.220T>G	ENSP00000484976.2:p.Cys74Gly
ENST00000617164.5:c.163T>G	ENSP00000480470.1:p.Cys55Gly
ENST00000619009.5:c.220T>G	ENSP00000482293.1:p.Cys74Gly
ENST00000650978.1:c.62T>G
ENST00000260947.8:c.220T>G	ENSP00000260947.4:p.Cys74Gly
ENST00000421162.1:c.215+4620T>G	ENSP00000392245.1:n.215+4620T>G
ENST00000455743.5:c.215+4620T>G	ENSP00000412186.1:n.215+4620T>G
ENST00000471787.1:n.260-10932T>G
ENST00000613192.1:c.73+16971T>G	ENSP00000483275.1:n.73+16971T>G
ENST00000613374.4:c.158+16971T>G	ENSP00000484464.1:n.158+16971T>G
ENST00000613706.4:c.215+4620T>G	ENSP00000484976.1:n.215+4620T>G
ENST00000617164.4:c.163T>G	ENSP00000480470.1:p.Cys55Gly
ENST00000619009.4:c.220T>G	ENSP00000482293.1:p.Cys74Gly
ENST00000620057.4:c.220T>G	ENSP00000481988.1:p.Cys74Gly
NM_000465.3:c.220T>G	NP_000456.2:p.Cys74Gly
NM_001282543.1:c.163T>G	NP_001269472.1:p.Cys55Gly
NM_001282545.1:c.215+4620T>G	NP_001269474.1:n.215+4620T>G
NM_001282548.1:c.158+16971T>G	NP_001269477.1:n.158+16971T>G
NM_001282549.1:c.220T>G	NP_001269478.1:p.Cys74Gly
NR_104212.1:n.357+4620T>G
NR_104215.1:n.301-10932T>G
NR_104216.1:n.362T>G
XM_011511567.1:c.166T>G	XP_011509869.1:p.Cys56Gly
XM_011511568.1:c.220T>G	XP_011509870.1:p.Cys74Gly
XM_017004613.1:c.319T>G	XP_016860102.1:p.Cys107Gly
XM_017004614.1:c.319T>G	XP_016860103.1:p.Cys107Gly
XR_002959322.1:n.410T>G
NM_000465.4:c.220T>G MANE Select	NP_000456.2:p.Cys74Gly
NM_001282543.2:c.163T>G	NP_001269472.1:p.Cys55Gly
NM_001282545.2:c.215+4620T>G	NP_001269474.1:n.215+4620T>G
NM_001282548.2:c.158+16971T>G	NP_001269477.1:n.158+16971T>G
NM_001282549.2:c.220T>G	NP_001269478.1:p.Cys74Gly
NR_104212.2:n.329+4620T>G
NR_104215.2:n.273-10932T>G
NR_104216.2:n.334T>G