Canonical Allele Identifier: CA2090120

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1050317
• ClinVar RCV Id: RCV001357566 ; RCV001762614 ; RCV003238357
• dbSNP Id: rs774178253
• ExAC: 2:215595244 A / C
• gnomAD v3: 2-214730520-A-C
• gnomAD v4: 2-214730520-A-C
• MyVariant Identifiers: chr2:g.215595244A>C (hg19) ; chr2:g.214730520A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730520A>C , CM000664.2:g.214730520A>C	GRCh38
NC_000002.11:g.215595244A>C , CM000664.1:g.215595244A>C	GRCh37
NC_000002.10:g.215303489A>C	NCBI36
NG_012047.2:g.84185T>G
NG_012047.3:g.84192T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1904-12T>G MANE Select	ENSP00000260947.4:n.1904-12T>G
ENST00000421162.2:c.551-12T>G	ENSP00000392245.2:n.551-12T>G
ENST00000613192.2:c.159-12T>G	ENSP00000483275.2:n.159-12T>G
ENST00000613374.5:c.494-12T>G	ENSP00000484464.1:n.494-12T>G
ENST00000613706.5:c.1496-12T>G	ENSP00000484976.2:n.1496-12T>G
ENST00000617164.5:c.1847-12T>G	ENSP00000480470.1:n.1847-12T>G
ENST00000619009.5:c.365-12T>G	ENSP00000482293.1:n.365-12T>G
ENST00000650978.1:c.3279-12T>G
ENST00000260947.8:c.1904-12T>G	ENSP00000260947.4:n.1904-12T>G
ENST00000421162.1:c.551-12T>G	ENSP00000392245.1:n.551-12T>G
ENST00000455743.5:c.*1524-12T>G	ENSP00000412186.1:n.*1524-12T>G
ENST00000471590.5:n.239-12T>G
ENST00000613192.1:c.74-12T>G	ENSP00000483275.1:n.74-12T>G
ENST00000613374.4:c.494-12T>G	ENSP00000484464.1:n.494-12T>G
ENST00000613706.4:c.551-12T>G	ENSP00000484976.1:n.551-12T>G
ENST00000617164.4:c.1847-12T>G	ENSP00000480470.1:n.1847-12T>G
ENST00000619009.4:c.365-12T>G	ENSP00000482293.1:n.365-12T>G
ENST00000620057.4:c.*570-12T>G	ENSP00000481988.1:n.*570-12T>G
NM_000465.3:c.1904-12T>G	NP_000456.2:n.1904-12T>G
NM_001282543.1:c.1847-12T>G	NP_001269472.1:n.1847-12T>G
NM_001282545.1:c.551-12T>G	NP_001269474.1:n.551-12T>G
NM_001282548.1:c.494-12T>G	NP_001269477.1:n.494-12T>G
NM_001282549.1:c.365-12T>G	NP_001269478.1:n.365-12T>G
NR_104212.1:n.1897-12T>G
NR_104215.1:n.1840-12T>G
NR_104216.1:n.1096-12T>G
XM_011511567.1:c.1850-12T>G	XP_011509869.1:n.1850-12T>G
XM_017004613.1:c.2003-12T>G	XP_016860102.1:n.2003-12T>G
XR_002959322.1:n.2094-12T>G
NM_000465.4:c.1904-12T>G MANE Select	NP_000456.2:n.1904-12T>G
NM_001282543.2:c.1847-12T>G	NP_001269472.1:n.1847-12T>G
NM_001282545.2:c.551-12T>G	NP_001269474.1:n.551-12T>G
NM_001282548.2:c.494-12T>G	NP_001269477.1:n.494-12T>G
NM_001282549.2:c.365-12T>G	NP_001269478.1:n.365-12T>G
NR_104212.2:n.1869-12T>G
NR_104215.2:n.1812-12T>G
NR_104216.2:n.1068-12T>G