Canonical Allele Identifier: CA350449975

Gene: BARD1

Linked Data

• dbSNP Id: rs1315128548
• gnomAD v2: 2-215593474-T-G
• gnomAD v4: 2-214728750-T-G
• MyVariant Identifiers: chr2:g.215593474T>G (hg19) ; chr2:g.214728750T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728750T>G , CM000664.2:g.214728750T>G	GRCh38
NC_000002.11:g.215593474T>G , CM000664.1:g.215593474T>G	GRCh37
NC_000002.10:g.215301719T>G	NCBI36
NG_012047.2:g.85955A>C
NG_012047.3:g.85962A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2260A>C MANE Select	ENSP00000260947.4:p.Lys754Gln
ENST00000421162.2:c.907A>C	ENSP00000392245.2:p.Lys303Gln
ENST00000613192.2:c.*323A>C	ENSP00000483275.2:n.*323A>C
ENST00000613374.5:c.850A>C	ENSP00000484464.1:p.Lys284Gln
ENST00000613706.5:c.1852A>C	ENSP00000484976.2:p.Lys618Gln
ENST00000617164.5:c.2203A>C	ENSP00000480470.1:p.Lys735Gln
ENST00000619009.5:c.721A>C	ENSP00000482293.1:p.Lys241Gln
ENST00000650978.1:c.3635A>C
ENST00000260947.8:c.2260A>C	ENSP00000260947.4:p.Lys754Gln
ENST00000432456.5:c.403A>C
ENST00000455743.5:c.*1880A>C	ENSP00000412186.1:n.*1880A>C
ENST00000471590.5:n.595A>C
ENST00000613192.1:c.430A>C	ENSP00000483275.1:p.Lys144Gln
ENST00000613374.4:c.850A>C	ENSP00000484464.1:p.Lys284Gln
ENST00000613706.4:c.907A>C	ENSP00000484976.1:p.Lys303Gln
ENST00000617164.4:c.2203A>C	ENSP00000480470.1:p.Lys735Gln
ENST00000619009.4:c.721A>C	ENSP00000482293.1:p.Lys241Gln
ENST00000620057.4:c.*926A>C	ENSP00000481988.1:n.*926A>C
NM_000465.3:c.2260A>C	NP_000456.2:p.Lys754Gln
NM_001282543.1:c.2203A>C	NP_001269472.1:p.Lys735Gln
NM_001282545.1:c.907A>C	NP_001269474.1:p.Lys303Gln
NM_001282548.1:c.850A>C	NP_001269477.1:p.Lys284Gln
NM_001282549.1:c.721A>C	NP_001269478.1:p.Lys241Gln
NR_104212.1:n.2253A>C
NR_104215.1:n.2196A>C
NR_104216.1:n.1452A>C
XM_011511567.1:c.2206A>C	XP_011509869.1:p.Lys736Gln
XM_017004613.1:c.2359A>C	XP_016860102.1:p.Lys787Gln
XR_002959322.1:n.2626A>C
NM_000465.4:c.2260A>C MANE Select	NP_000456.2:p.Lys754Gln
NM_001282543.2:c.2203A>C	NP_001269472.1:p.Lys735Gln
NM_001282545.2:c.907A>C	NP_001269474.1:p.Lys303Gln
NM_001282548.2:c.850A>C	NP_001269477.1:p.Lys284Gln
NM_001282549.2:c.721A>C	NP_001269478.1:p.Lys241Gln
NR_104212.2:n.2225A>C
NR_104215.2:n.2168A>C
NR_104216.2:n.1424A>C