Canonical Allele Identifier: CA10577778

Gene: BARD1

Linked Data

• ClinVar Variation Id: 230296
• ClinVar RCV Id: RCV000221735 ; RCV003437014
• dbSNP Id: rs876658489
• gnomAD v4: 2-214730498-T-C
• MyVariant Identifiers: chr2:g.215595222T>C (hg19) ; chr2:g.214730498T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730498T>C , CM000664.2:g.214730498T>C	GRCh38
NC_000002.11:g.215595222T>C , CM000664.1:g.215595222T>C	GRCh37
NC_000002.10:g.215303467T>C	NCBI36
NG_012047.2:g.84207A>G
NG_012047.3:g.84214A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1914A>G MANE Select	ENSP00000260947.4:p.Ala638=
ENST00000421162.2:c.561A>G	ENSP00000392245.2:p.Ala187=
ENST00000613192.2:c.169A>G	ENSP00000483275.2:p.Met57Val
ENST00000613374.5:c.504A>G	ENSP00000484464.1:p.Ala168=
ENST00000613706.5:c.1506A>G	ENSP00000484976.2:p.Ala502=
ENST00000617164.5:c.1857A>G	ENSP00000480470.1:p.Ala619=
ENST00000619009.5:c.375A>G	ENSP00000482293.1:p.Ala125=
ENST00000650978.1:c.3289A>G
ENST00000260947.8:c.1914A>G	ENSP00000260947.4:p.Ala638=
ENST00000421162.1:c.561A>G	ENSP00000392245.1:p.Ala187=
ENST00000432456.5:c.11A>G
ENST00000455743.5:c.*1534A>G	ENSP00000412186.1:n.*1534A>G
ENST00000471590.5:n.249A>G
ENST00000613192.1:c.84A>G	ENSP00000483275.1:p.Ala28=
ENST00000613374.4:c.504A>G	ENSP00000484464.1:p.Ala168=
ENST00000613706.4:c.561A>G	ENSP00000484976.1:p.Ala187=
ENST00000617164.4:c.1857A>G	ENSP00000480470.1:p.Ala619=
ENST00000619009.4:c.375A>G	ENSP00000482293.1:p.Ala125=
ENST00000620057.4:c.*580A>G	ENSP00000481988.1:n.*580A>G
NM_000465.3:c.1914A>G	NP_000456.2:p.Ala638=
NM_001282543.1:c.1857A>G	NP_001269472.1:p.Ala619=
NM_001282545.1:c.561A>G	NP_001269474.1:p.Ala187=
NM_001282548.1:c.504A>G	NP_001269477.1:p.Ala168=
NM_001282549.1:c.375A>G	NP_001269478.1:p.Ala125=
NR_104212.1:n.1907A>G
NR_104215.1:n.1850A>G
NR_104216.1:n.1106A>G
XM_011511567.1:c.1860A>G	XP_011509869.1:p.Ala620=
XM_017004613.1:c.2013A>G	XP_016860102.1:p.Ala671=
XR_002959322.1:n.2104A>G
NM_000465.4:c.1914A>G MANE Select	NP_000456.2:p.Ala638=
NM_001282543.2:c.1857A>G	NP_001269472.1:p.Ala619=
NM_001282545.2:c.561A>G	NP_001269474.1:p.Ala187=
NM_001282548.2:c.504A>G	NP_001269477.1:p.Ala168=
NM_001282549.2:c.375A>G	NP_001269478.1:p.Ala125=
NR_104212.2:n.1879A>G
NR_104215.2:n.1822A>G
NR_104216.2:n.1078A>G