Canonical Allele Identifier: CA350449988

Gene: BARD1

Linked Data

• ClinVar Variation Id: 479151
• ClinVar RCV Id: RCV000574561 ; RCV001858072
• dbSNP Id: rs587782246
• gnomAD v4: 2-214728758-C-G
• MyVariant Identifiers: chr2:g.215593482C>G (hg19) ; chr2:g.214728758C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728758C>G , CM000664.2:g.214728758C>G	GRCh38
NC_000002.11:g.215593482C>G , CM000664.1:g.215593482C>G	GRCh37
NC_000002.10:g.215301727C>G	NCBI36
NG_012047.2:g.85947G>C
NG_012047.3:g.85954G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2252G>C MANE Select	ENSP00000260947.4:p.Arg751Pro
ENST00000421162.2:c.899G>C	ENSP00000392245.2:p.Arg300Pro
ENST00000613192.2:c.*315G>C	ENSP00000483275.2:n.*315G>C
ENST00000613374.5:c.842G>C	ENSP00000484464.1:p.Arg281Pro
ENST00000613706.5:c.1844G>C	ENSP00000484976.2:p.Arg615Pro
ENST00000617164.5:c.2195G>C	ENSP00000480470.1:p.Arg732Pro
ENST00000619009.5:c.713G>C	ENSP00000482293.1:p.Arg238Pro
ENST00000650978.1:c.3627G>C
ENST00000260947.8:c.2252G>C	ENSP00000260947.4:p.Arg751Pro
ENST00000432456.5:c.395G>C
ENST00000455743.5:c.*1872G>C	ENSP00000412186.1:n.*1872G>C
ENST00000471590.5:n.587G>C
ENST00000613192.1:c.422G>C	ENSP00000483275.1:p.Arg141Pro
ENST00000613374.4:c.842G>C	ENSP00000484464.1:p.Arg281Pro
ENST00000613706.4:c.899G>C	ENSP00000484976.1:p.Arg300Pro
ENST00000617164.4:c.2195G>C	ENSP00000480470.1:p.Arg732Pro
ENST00000619009.4:c.713G>C	ENSP00000482293.1:p.Arg238Pro
ENST00000620057.4:c.*918G>C	ENSP00000481988.1:n.*918G>C
NM_000465.3:c.2252G>C	NP_000456.2:p.Arg751Pro
NM_001282543.1:c.2195G>C	NP_001269472.1:p.Arg732Pro
NM_001282545.1:c.899G>C	NP_001269474.1:p.Arg300Pro
NM_001282548.1:c.842G>C	NP_001269477.1:p.Arg281Pro
NM_001282549.1:c.713G>C	NP_001269478.1:p.Arg238Pro
NR_104212.1:n.2245G>C
NR_104215.1:n.2188G>C
NR_104216.1:n.1444G>C
XM_011511567.1:c.2198G>C	XP_011509869.1:p.Arg733Pro
XM_017004613.1:c.2351G>C	XP_016860102.1:p.Arg784Pro
XR_002959322.1:n.2618G>C
NM_000465.4:c.2252G>C MANE Select	NP_000456.2:p.Arg751Pro
NM_001282543.2:c.2195G>C	NP_001269472.1:p.Arg732Pro
NM_001282545.2:c.899G>C	NP_001269474.1:p.Arg300Pro
NM_001282548.2:c.842G>C	NP_001269477.1:p.Arg281Pro
NM_001282549.2:c.713G>C	NP_001269478.1:p.Arg238Pro
NR_104212.2:n.2217G>C
NR_104215.2:n.2160G>C
NR_104216.2:n.1416G>C