Canonical Allele Identifier: CA64793900

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1178244
• ClinVar RCV Id: RCV001534492 ; RCV002225851
• dbSNP Id: rs4986840
• gnomAD v2: 2-215595299-T-C
• gnomAD v3: 2-214730575-T-C
• gnomAD v4: 2-214730575-T-C
• MyVariant Identifiers: chr2:g.215595299T>C (hg19) ; chr2:g.214730575T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730575T>C , CM000664.2:g.214730575T>C	GRCh38
NC_000002.11:g.215595299T>C , CM000664.1:g.215595299T>C	GRCh37
NC_000002.10:g.215303544T>C	NCBI36
NG_012047.2:g.84130A>G
NG_012047.3:g.84137A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1904-67A>G MANE Select	ENSP00000260947.4:n.1904-67A>G
ENST00000421162.2:c.551-67A>G	ENSP00000392245.2:n.551-67A>G
ENST00000613192.2:c.159-67A>G	ENSP00000483275.2:n.159-67A>G
ENST00000613374.5:c.494-67A>G	ENSP00000484464.1:n.494-67A>G
ENST00000613706.5:c.1496-67A>G	ENSP00000484976.2:n.1496-67A>G
ENST00000617164.5:c.1847-67A>G	ENSP00000480470.1:n.1847-67A>G
ENST00000619009.5:c.365-67A>G	ENSP00000482293.1:n.365-67A>G
ENST00000650978.1:c.3279-67A>G
ENST00000260947.8:c.1904-67A>G	ENSP00000260947.4:n.1904-67A>G
ENST00000421162.1:c.551-67A>G	ENSP00000392245.1:n.551-67A>G
ENST00000455743.5:c.*1524-67A>G	ENSP00000412186.1:n.*1524-67A>G
ENST00000471590.5:n.239-67A>G
ENST00000613192.1:c.74-67A>G	ENSP00000483275.1:n.74-67A>G
ENST00000613374.4:c.494-67A>G	ENSP00000484464.1:n.494-67A>G
ENST00000613706.4:c.551-67A>G	ENSP00000484976.1:n.551-67A>G
ENST00000617164.4:c.1847-67A>G	ENSP00000480470.1:n.1847-67A>G
ENST00000619009.4:c.365-67A>G	ENSP00000482293.1:n.365-67A>G
ENST00000620057.4:c.*570-67A>G	ENSP00000481988.1:n.*570-67A>G
NM_000465.3:c.1904-67A>G	NP_000456.2:n.1904-67A>G
NM_001282543.1:c.1847-67A>G	NP_001269472.1:n.1847-67A>G
NM_001282545.1:c.551-67A>G	NP_001269474.1:n.551-67A>G
NM_001282548.1:c.494-67A>G	NP_001269477.1:n.494-67A>G
NM_001282549.1:c.365-67A>G	NP_001269478.1:n.365-67A>G
NR_104212.1:n.1897-67A>G
NR_104215.1:n.1840-67A>G
NR_104216.1:n.1096-67A>G
XM_011511567.1:c.1850-67A>G	XP_011509869.1:n.1850-67A>G
XM_017004613.1:c.2003-67A>G	XP_016860102.1:n.2003-67A>G
XR_002959322.1:n.2094-67A>G
NM_000465.4:c.1904-67A>G MANE Select	NP_000456.2:n.1904-67A>G
NM_001282543.2:c.1847-67A>G	NP_001269472.1:n.1847-67A>G
NM_001282545.2:c.551-67A>G	NP_001269474.1:n.551-67A>G
NM_001282548.2:c.494-67A>G	NP_001269477.1:n.494-67A>G
NM_001282549.2:c.365-67A>G	NP_001269478.1:n.365-67A>G
NR_104212.2:n.1869-67A>G
NR_104215.2:n.1812-67A>G
NR_104216.2:n.1068-67A>G