Canonical Allele Identifier: CA350451332

Gene: BARD1

Linked Data

• ClinVar Variation Id: 530208
• ClinVar RCV Id: RCV000635945 ; RCV002406365
• dbSNP Id: rs1553612540
• gnomAD v4: 2-214730503-T-C
• MyVariant Identifiers: chr2:g.215595227T>C (hg19) ; chr2:g.214730503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730503T>C , CM000664.2:g.214730503T>C	GRCh38
NC_000002.11:g.215595227T>C , CM000664.1:g.215595227T>C	GRCh37
NC_000002.10:g.215303472T>C	NCBI36
NG_012047.2:g.84202A>G
NG_012047.3:g.84209A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1909A>G MANE Select	ENSP00000260947.4:p.Lys637Glu
ENST00000421162.2:c.556A>G	ENSP00000392245.2:p.Lys186Glu
ENST00000613192.2:c.164A>G	ENSP00000483275.2:p.Lys55Arg
ENST00000613374.5:c.499A>G	ENSP00000484464.1:p.Lys167Glu
ENST00000613706.5:c.1501A>G	ENSP00000484976.2:p.Lys501Glu
ENST00000617164.5:c.1852A>G	ENSP00000480470.1:p.Lys618Glu
ENST00000619009.5:c.370A>G	ENSP00000482293.1:p.Lys124Glu
ENST00000650978.1:c.3284A>G
ENST00000260947.8:c.1909A>G	ENSP00000260947.4:p.Lys637Glu
ENST00000421162.1:c.556A>G	ENSP00000392245.1:p.Lys186Glu
ENST00000432456.5:c.6A>G
ENST00000455743.5:c.*1529A>G	ENSP00000412186.1:n.*1529A>G
ENST00000471590.5:n.244A>G
ENST00000613192.1:c.79A>G	ENSP00000483275.1:p.Lys27Glu
ENST00000613374.4:c.499A>G	ENSP00000484464.1:p.Lys167Glu
ENST00000613706.4:c.556A>G	ENSP00000484976.1:p.Lys186Glu
ENST00000617164.4:c.1852A>G	ENSP00000480470.1:p.Lys618Glu
ENST00000619009.4:c.370A>G	ENSP00000482293.1:p.Lys124Glu
ENST00000620057.4:c.*575A>G	ENSP00000481988.1:n.*575A>G
NM_000465.3:c.1909A>G	NP_000456.2:p.Lys637Glu
NM_001282543.1:c.1852A>G	NP_001269472.1:p.Lys618Glu
NM_001282545.1:c.556A>G	NP_001269474.1:p.Lys186Glu
NM_001282548.1:c.499A>G	NP_001269477.1:p.Lys167Glu
NM_001282549.1:c.370A>G	NP_001269478.1:p.Lys124Glu
NR_104212.1:n.1902A>G
NR_104215.1:n.1845A>G
NR_104216.1:n.1101A>G
XM_011511567.1:c.1855A>G	XP_011509869.1:p.Lys619Glu
XM_017004613.1:c.2008A>G	XP_016860102.1:p.Lys670Glu
XR_002959322.1:n.2099A>G
NM_000465.4:c.1909A>G MANE Select	NP_000456.2:p.Lys637Glu
NM_001282543.2:c.1852A>G	NP_001269472.1:p.Lys618Glu
NM_001282545.2:c.556A>G	NP_001269474.1:p.Lys186Glu
NM_001282548.2:c.499A>G	NP_001269477.1:p.Lys167Glu
NM_001282549.2:c.370A>G	NP_001269478.1:p.Lys124Glu
NR_104212.2:n.1874A>G
NR_104215.2:n.1817A>G
NR_104216.2:n.1073A>G