Canonical Allele Identifier: CA431144730

Gene: BARD1

Linked Data

• ClinVar Variation Id: 820305
• ClinVar RCV Id: RCV001013620 ; RCV001207549
• dbSNP Id: rs1559385976
• gnomAD v4: 2-214745068-T-C
• MyVariant Identifiers: chr2:g.215609792T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745068T>C , CM000664.2:g.214745068T>C	GRCh38
NC_000002.11:g.215609792T>C , CM000664.1:g.215609792T>C	GRCh37
NC_000002.10:g.215318037T>C	NCBI36
NG_012047.2:g.69637A>G
NG_012047.3:g.69644A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1902A>G MANE Select	ENSP00000260947.4:p.Glu634=
ENST00000421162.2:c.549A>G	ENSP00000392245.2:p.Glu183=
ENST00000613192.2:c.159-14560A>G	ENSP00000483275.2:n.159-14560A>G
ENST00000613374.5:c.492A>G	ENSP00000484464.1:p.Glu164=
ENST00000613706.5:c.1494A>G	ENSP00000484976.2:p.Glu498=
ENST00000617164.5:c.1845A>G	ENSP00000480470.1:p.Glu615=
ENST00000619009.5:c.365-14560A>G	ENSP00000482293.1:n.365-14560A>G
ENST00000650978.1:c.3277A>G
ENST00000260947.8:c.1902A>G	ENSP00000260947.4:p.Glu634=
ENST00000421162.1:c.549A>G	ENSP00000392245.1:p.Glu183=
ENST00000455743.5:c.*1522A>G	ENSP00000412186.1:n.*1522A>G
ENST00000613192.1:c.74-14560A>G	ENSP00000483275.1:n.74-14560A>G
ENST00000613374.4:c.492A>G	ENSP00000484464.1:p.Glu164=
ENST00000613706.4:c.549A>G	ENSP00000484976.1:p.Glu183=
ENST00000617164.4:c.1845A>G	ENSP00000480470.1:p.Glu615=
ENST00000619009.4:c.365-14560A>G	ENSP00000482293.1:n.365-14560A>G
ENST00000620057.4:c.*568A>G	ENSP00000481988.1:n.*568A>G
NM_000465.3:c.1902A>G	NP_000456.2:p.Glu634=
NM_001282543.1:c.1845A>G	NP_001269472.1:p.Glu615=
NM_001282545.1:c.549A>G	NP_001269474.1:p.Glu183=
NM_001282548.1:c.492A>G	NP_001269477.1:p.Glu164=
NM_001282549.1:c.365-14560A>G	NP_001269478.1:n.365-14560A>G
NR_104212.1:n.1895A>G
NR_104215.1:n.1838A>G
NR_104216.1:n.1094A>G
XM_011511567.1:c.1848A>G	XP_011509869.1:p.Glu616=
XM_011511568.1:c.1902A>G	XP_011509870.1:p.Glu634=
XM_017004613.1:c.2001A>G	XP_016860102.1:p.Glu667=
XM_017004614.1:c.2001A>G	XP_016860103.1:p.Glu667=
XR_002959322.1:n.2092A>G
NM_000465.4:c.1902A>G MANE Select	NP_000456.2:p.Glu634=
NM_001282543.2:c.1845A>G	NP_001269472.1:p.Glu615=
NM_001282545.2:c.549A>G	NP_001269474.1:p.Glu183=
NM_001282548.2:c.492A>G	NP_001269477.1:p.Glu164=
NM_001282549.2:c.365-14560A>G	NP_001269478.1:n.365-14560A>G
NR_104212.2:n.1867A>G
NR_104215.2:n.1810A>G
NR_104216.2:n.1066A>G