Canonical Allele Identifier: CA350450469

Gene: BARD1

Linked Data

• dbSNP Id: rs876658526
• gnomAD v2: 2-215593584-A-G
• gnomAD v4: 2-214728860-A-G
• MyVariant Identifiers: chr2:g.215593584A>G (hg19) ; chr2:g.215593584_215593586delinsGTG (hg19) ; chr2:g.214728860A>G (hg38) ; chr2:g.214728860_214728862delinsGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728860A>G , CM000664.2:g.214728860A>G	GRCh38
NC_000002.11:g.215593584A>G , CM000664.1:g.215593584A>G	GRCh37
NC_000002.10:g.215301829A>G	NCBI36
NG_012047.2:g.85845T>C
NG_012047.3:g.85852T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2150T>C MANE Select	ENSP00000260947.4:p.Ile717Thr
ENST00000421162.2:c.797T>C	ENSP00000392245.2:p.Ile266Thr
ENST00000613192.2:c.*213T>C	ENSP00000483275.2:n.*213T>C
ENST00000613374.5:c.740T>C	ENSP00000484464.1:p.Ile247Thr
ENST00000613706.5:c.1742T>C	ENSP00000484976.2:p.Ile581Thr
ENST00000617164.5:c.2093T>C	ENSP00000480470.1:p.Ile698Thr
ENST00000619009.5:c.611T>C	ENSP00000482293.1:p.Ile204Thr
ENST00000650978.1:c.3525T>C
ENST00000260947.8:c.2150T>C	ENSP00000260947.4:p.Ile717Thr
ENST00000432456.5:c.293T>C
ENST00000455743.5:c.*1770T>C	ENSP00000412186.1:n.*1770T>C
ENST00000471590.5:n.485T>C
ENST00000613192.1:c.320T>C	ENSP00000483275.1:p.Ile107Thr
ENST00000613374.4:c.740T>C	ENSP00000484464.1:p.Ile247Thr
ENST00000613706.4:c.797T>C	ENSP00000484976.1:p.Ile266Thr
ENST00000617164.4:c.2093T>C	ENSP00000480470.1:p.Ile698Thr
ENST00000619009.4:c.611T>C	ENSP00000482293.1:p.Ile204Thr
ENST00000620057.4:c.*816T>C	ENSP00000481988.1:n.*816T>C
NM_000465.3:c.2150T>C	NP_000456.2:p.Ile717Thr
NM_001282543.1:c.2093T>C	NP_001269472.1:p.Ile698Thr
NM_001282545.1:c.797T>C	NP_001269474.1:p.Ile266Thr
NM_001282548.1:c.740T>C	NP_001269477.1:p.Ile247Thr
NM_001282549.1:c.611T>C	NP_001269478.1:p.Ile204Thr
NR_104212.1:n.2143T>C
NR_104215.1:n.2086T>C
NR_104216.1:n.1342T>C
XM_011511567.1:c.2096T>C	XP_011509869.1:p.Ile699Thr
XM_017004613.1:c.2249T>C	XP_016860102.1:p.Ile750Thr
XR_002959322.1:n.2516T>C
NM_000465.4:c.2150T>C MANE Select	NP_000456.2:p.Ile717Thr
NM_001282543.2:c.2093T>C	NP_001269472.1:p.Ile698Thr
NM_001282545.2:c.797T>C	NP_001269474.1:p.Ile266Thr
NM_001282548.2:c.740T>C	NP_001269477.1:p.Ile247Thr
NM_001282549.2:c.611T>C	NP_001269478.1:p.Ile204Thr
NR_104212.2:n.2115T>C
NR_104215.2:n.2058T>C
NR_104216.2:n.1314T>C