Canonical Allele Identifier: CA350451323

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595226T>G (hg19) ; chr2:g.214730502T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730502T>G , CM000664.2:g.214730502T>G	GRCh38
NC_000002.11:g.215595226T>G , CM000664.1:g.215595226T>G	GRCh37
NC_000002.10:g.215303471T>G	NCBI36
NG_012047.2:g.84203A>C
NG_012047.3:g.84210A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1910A>C MANE Select	ENSP00000260947.4:p.Lys637Thr
ENST00000421162.2:c.557A>C	ENSP00000392245.2:p.Lys186Thr
ENST00000613192.2:c.165A>C	ENSP00000483275.2:p.Lys55Asn
ENST00000613374.5:c.500A>C	ENSP00000484464.1:p.Lys167Thr
ENST00000613706.5:c.1502A>C	ENSP00000484976.2:p.Lys501Thr
ENST00000617164.5:c.1853A>C	ENSP00000480470.1:p.Lys618Thr
ENST00000619009.5:c.371A>C	ENSP00000482293.1:p.Lys124Thr
ENST00000650978.1:c.3285A>C
ENST00000260947.8:c.1910A>C	ENSP00000260947.4:p.Lys637Thr
ENST00000421162.1:c.557A>C	ENSP00000392245.1:p.Lys186Thr
ENST00000432456.5:c.7A>C
ENST00000455743.5:c.*1530A>C	ENSP00000412186.1:n.*1530A>C
ENST00000471590.5:n.245A>C
ENST00000613192.1:c.80A>C	ENSP00000483275.1:p.Lys27Thr
ENST00000613374.4:c.500A>C	ENSP00000484464.1:p.Lys167Thr
ENST00000613706.4:c.557A>C	ENSP00000484976.1:p.Lys186Thr
ENST00000617164.4:c.1853A>C	ENSP00000480470.1:p.Lys618Thr
ENST00000619009.4:c.371A>C	ENSP00000482293.1:p.Lys124Thr
ENST00000620057.4:c.*576A>C	ENSP00000481988.1:n.*576A>C
NM_000465.3:c.1910A>C	NP_000456.2:p.Lys637Thr
NM_001282543.1:c.1853A>C	NP_001269472.1:p.Lys618Thr
NM_001282545.1:c.557A>C	NP_001269474.1:p.Lys186Thr
NM_001282548.1:c.500A>C	NP_001269477.1:p.Lys167Thr
NM_001282549.1:c.371A>C	NP_001269478.1:p.Lys124Thr
NR_104212.1:n.1903A>C
NR_104215.1:n.1846A>C
NR_104216.1:n.1102A>C
XM_011511567.1:c.1856A>C	XP_011509869.1:p.Lys619Thr
XM_017004613.1:c.2009A>C	XP_016860102.1:p.Lys670Thr
XR_002959322.1:n.2100A>C
NM_000465.4:c.1910A>C MANE Select	NP_000456.2:p.Lys637Thr
NM_001282543.2:c.1853A>C	NP_001269472.1:p.Lys618Thr
NM_001282545.2:c.557A>C	NP_001269474.1:p.Lys186Thr
NM_001282548.2:c.500A>C	NP_001269477.1:p.Lys167Thr
NM_001282549.2:c.371A>C	NP_001269478.1:p.Lys124Thr
NR_104212.2:n.1875A>C
NR_104215.2:n.1818A>C
NR_104216.2:n.1074A>C