Canonical Allele Identifier: CA2090114

Gene: BARD1

Linked Data

• ClinVar Variation Id: 479135
• ClinVar RCV Id: RCV000569437 ; RCV003114682
• dbSNP Id: rs765487816
• ExAC: 2:215595212 T / C
• gnomAD v2: 2-215595212-T-C
• gnomAD v4: 2-214730488-T-C
• MyVariant Identifiers: chr2:g.215595212T>C (hg19) ; chr2:g.214730488T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730488T>C , CM000664.2:g.214730488T>C	GRCh38
NC_000002.11:g.215595212T>C , CM000664.1:g.215595212T>C	GRCh37
NC_000002.10:g.215303457T>C	NCBI36
NG_012047.2:g.84217A>G
NG_012047.3:g.84224A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1924A>G MANE Select	ENSP00000260947.4:p.Arg642Gly
ENST00000421162.2:c.571A>G	ENSP00000392245.2:p.Arg191Gly
ENST00000613192.2:c.179A>G	ENSP00000483275.2:p.Lys60Arg
ENST00000613374.5:c.514A>G	ENSP00000484464.1:p.Arg172Gly
ENST00000613706.5:c.1516A>G	ENSP00000484976.2:p.Arg506Gly
ENST00000617164.5:c.1867A>G	ENSP00000480470.1:p.Arg623Gly
ENST00000619009.5:c.385A>G	ENSP00000482293.1:p.Arg129Gly
ENST00000650978.1:c.3299A>G
ENST00000260947.8:c.1924A>G	ENSP00000260947.4:p.Arg642Gly
ENST00000421162.1:c.571A>G	ENSP00000392245.1:p.Arg191Gly
ENST00000432456.5:c.21A>G
ENST00000455743.5:c.*1544A>G	ENSP00000412186.1:n.*1544A>G
ENST00000471590.5:n.259A>G
ENST00000613192.1:c.94A>G	ENSP00000483275.1:p.Arg32Gly
ENST00000613374.4:c.514A>G	ENSP00000484464.1:p.Arg172Gly
ENST00000613706.4:c.571A>G	ENSP00000484976.1:p.Arg191Gly
ENST00000617164.4:c.1867A>G	ENSP00000480470.1:p.Arg623Gly
ENST00000619009.4:c.385A>G	ENSP00000482293.1:p.Arg129Gly
ENST00000620057.4:c.*590A>G	ENSP00000481988.1:n.*590A>G
NM_000465.3:c.1924A>G	NP_000456.2:p.Arg642Gly
NM_001282543.1:c.1867A>G	NP_001269472.1:p.Arg623Gly
NM_001282545.1:c.571A>G	NP_001269474.1:p.Arg191Gly
NM_001282548.1:c.514A>G	NP_001269477.1:p.Arg172Gly
NM_001282549.1:c.385A>G	NP_001269478.1:p.Arg129Gly
NR_104212.1:n.1917A>G
NR_104215.1:n.1860A>G
NR_104216.1:n.1116A>G
XM_011511567.1:c.1870A>G	XP_011509869.1:p.Arg624Gly
XM_017004613.1:c.2023A>G	XP_016860102.1:p.Arg675Gly
XR_002959322.1:n.2114A>G
NM_000465.4:c.1924A>G MANE Select	NP_000456.2:p.Arg642Gly
NM_001282543.2:c.1867A>G	NP_001269472.1:p.Arg623Gly
NM_001282545.2:c.571A>G	NP_001269474.1:p.Arg191Gly
NM_001282548.2:c.514A>G	NP_001269477.1:p.Arg172Gly
NM_001282549.2:c.385A>G	NP_001269478.1:p.Arg129Gly
NR_104212.2:n.1889A>G
NR_104215.2:n.1832A>G
NR_104216.2:n.1088A>G