Canonical Allele Identifier: CA764568211

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2801604
• ClinVar RCV Id: RCV003607758
• dbSNP Id: rs1211334325
• gnomAD v3: 2-214745863-A-C
• gnomAD v4: 2-214745863-A-C
• MyVariant Identifiers: chr2:g.215610587A>C (hg19) ; chr2:g.214745863A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745863A>C , CM000664.2:g.214745863A>C	GRCh38
NC_000002.11:g.215610587A>C , CM000664.1:g.215610587A>C	GRCh37
NC_000002.10:g.215318832A>C	NCBI36
NG_012047.2:g.68842T>G
NG_012047.3:g.68849T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1678-9T>G MANE Select	ENSP00000260947.4:n.1678-9T>G
ENST00000421162.2:c.325-9T>G	ENSP00000392245.2:n.325-9T>G
ENST00000613192.2:c.159-15355T>G	ENSP00000483275.2:n.159-15355T>G
ENST00000613374.5:c.268-9T>G	ENSP00000484464.1:n.268-9T>G
ENST00000613706.5:c.1270-9T>G	ENSP00000484976.2:n.1270-9T>G
ENST00000617164.5:c.1621-9T>G	ENSP00000480470.1:n.1621-9T>G
ENST00000619009.5:c.365-15355T>G	ENSP00000482293.1:n.365-15355T>G
ENST00000650978.1:c.3053-9T>G
ENST00000260947.8:c.1678-9T>G	ENSP00000260947.4:n.1678-9T>G
ENST00000421162.1:c.325-9T>G	ENSP00000392245.1:n.325-9T>G
ENST00000455743.5:c.*1298-9T>G	ENSP00000412186.1:n.*1298-9T>G
ENST00000465841.1:n.33-9T>G
ENST00000613192.1:c.74-15355T>G	ENSP00000483275.1:n.74-15355T>G
ENST00000613374.4:c.268-9T>G	ENSP00000484464.1:n.268-9T>G
ENST00000613706.4:c.325-9T>G	ENSP00000484976.1:n.325-9T>G
ENST00000617164.4:c.1621-9T>G	ENSP00000480470.1:n.1621-9T>G
ENST00000619009.4:c.365-15355T>G	ENSP00000482293.1:n.365-15355T>G
ENST00000620057.4:c.*344-9T>G	ENSP00000481988.1:n.*344-9T>G
NM_000465.3:c.1678-9T>G	NP_000456.2:n.1678-9T>G
NM_001282543.1:c.1621-9T>G	NP_001269472.1:n.1621-9T>G
NM_001282545.1:c.325-9T>G	NP_001269474.1:n.325-9T>G
NM_001282548.1:c.268-9T>G	NP_001269477.1:n.268-9T>G
NM_001282549.1:c.365-15355T>G	NP_001269478.1:n.365-15355T>G
NR_104212.1:n.1671-9T>G
NR_104215.1:n.1614-9T>G
NR_104216.1:n.870-9T>G
XM_011511567.1:c.1624-9T>G	XP_011509869.1:n.1624-9T>G
XM_011511568.1:c.1678-9T>G	XP_011509870.1:n.1678-9T>G
XM_017004613.1:c.1777-9T>G	XP_016860102.1:n.1777-9T>G
XM_017004614.1:c.1777-9T>G	XP_016860103.1:n.1777-9T>G
XR_002959322.1:n.1868-9T>G
NM_000465.4:c.1678-9T>G MANE Select	NP_000456.2:n.1678-9T>G
NM_001282543.2:c.1621-9T>G	NP_001269472.1:n.1621-9T>G
NM_001282545.2:c.325-9T>G	NP_001269474.1:n.325-9T>G
NM_001282548.2:c.268-9T>G	NP_001269477.1:n.268-9T>G
NM_001282549.2:c.365-15355T>G	NP_001269478.1:n.365-15355T>G
NR_104212.2:n.1643-9T>G
NR_104215.2:n.1586-9T>G
NR_104216.2:n.842-9T>G