Canonical Allele Identifier: CA192141

Gene: BARD1

Linked Data

• ClinVar Variation Id: 185502
• ClinVar RCV Id: RCV000164942 ; RCV000235987 ; RCV000635846 ; RCV001001072
• dbSNP Id: rs786202226
• gnomAD v2: 2-215645372-G-C
• gnomAD v3: 2-214780648-G-C
• gnomAD v4: 2-214780648-G-C
• MyVariant Identifiers: chr2:g.215645372G>C (hg19) ; chr2:g.214780648G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780648G>C , CM000664.2:g.214780648G>C	GRCh38
NC_000002.11:g.215645372G>C , CM000664.1:g.215645372G>C	GRCh37
NC_000002.10:g.215353617G>C	NCBI36
NG_012047.2:g.34057C>G
NG_012047.3:g.34064C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1226C>G MANE Select	ENSP00000260947.4:p.Ser409Cys
ENST00000421162.2:c.215+16413C>G	ENSP00000392245.2:n.215+16413C>G
ENST00000613192.2:c.158+28764C>G	ENSP00000483275.2:n.158+28764C>G
ENST00000613374.5:c.159-28093C>G	ENSP00000484464.1:n.159-28093C>G
ENST00000613706.5:c.906+320C>G	ENSP00000484976.2:n.906+320C>G
ENST00000617164.5:c.1169C>G	ENSP00000480470.1:p.Ser390Cys
ENST00000619009.5:c.364+11649C>G	ENSP00000482293.1:n.364+11649C>G
ENST00000650978.1:c.1068C>G
ENST00000260947.8:c.1226C>G	ENSP00000260947.4:p.Ser409Cys
ENST00000421162.1:c.215+16413C>G	ENSP00000392245.1:n.215+16413C>G
ENST00000455743.5:c.*846C>G	ENSP00000412186.1:n.*846C>G
ENST00000613192.1:c.73+28764C>G	ENSP00000483275.1:n.73+28764C>G
ENST00000613374.4:c.159-28093C>G	ENSP00000484464.1:n.159-28093C>G
ENST00000613706.4:c.215+16413C>G	ENSP00000484976.1:n.215+16413C>G
ENST00000617164.4:c.1169C>G	ENSP00000480470.1:p.Ser390Cys
ENST00000619009.4:c.364+11649C>G	ENSP00000482293.1:n.364+11649C>G
ENST00000620057.4:c.365-11336C>G	ENSP00000481988.1:n.365-11336C>G
NM_000465.3:c.1226C>G	NP_000456.2:p.Ser409Cys
NM_001282543.1:c.1169C>G	NP_001269472.1:p.Ser390Cys
NM_001282545.1:c.215+16413C>G	NP_001269474.1:n.215+16413C>G
NM_001282548.1:c.159-28093C>G	NP_001269477.1:n.159-28093C>G
NM_001282549.1:c.364+11649C>G	NP_001269478.1:n.364+11649C>G
NR_104212.1:n.1219C>G
NR_104215.1:n.1162C>G
NR_104216.1:n.507-11336C>G
XM_011511567.1:c.1172C>G	XP_011509869.1:p.Ser391Cys
XM_011511568.1:c.1226C>G	XP_011509870.1:p.Ser409Cys
XM_017004613.1:c.1325C>G	XP_016860102.1:p.Ser442Cys
XM_017004614.1:c.1325C>G	XP_016860103.1:p.Ser442Cys
XR_002959322.1:n.1416C>G
NM_000465.4:c.1226C>G MANE Select	NP_000456.2:p.Ser409Cys
NM_001282543.2:c.1169C>G	NP_001269472.1:p.Ser390Cys
NM_001282545.2:c.215+16413C>G	NP_001269474.1:n.215+16413C>G
NM_001282548.2:c.159-28093C>G	NP_001269477.1:n.159-28093C>G
NM_001282549.2:c.364+11649C>G	NP_001269478.1:n.364+11649C>G
NR_104212.2:n.1191C>G
NR_104215.2:n.1134C>G
NR_104216.2:n.479-11336C>G