Canonical Allele Identifier: CA16610598

Gene: BARD1

Linked Data

• ClinVar Variation Id: 406789
• ClinVar RCV Id: RCV000458264 ; RCV000573242
• dbSNP Id: rs1060501308
• gnomAD v4: 2-214797065-A-C
• MyVariant Identifiers: chr2:g.215661789A>C (hg19) ; chr2:g.214797065A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214797065A>C , CM000664.2:g.214797065A>C	GRCh38
NC_000002.11:g.215661789A>C , CM000664.1:g.215661789A>C	GRCh37
NC_000002.10:g.215370034A>C	NCBI36
NG_012047.2:g.17640T>G
NG_012047.3:g.17647T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.211T>G MANE Select	ENSP00000260947.4:p.Cys71Gly
ENST00000421162.2:c.211T>G	ENSP00000392245.2:p.Cys71Gly
ENST00000613192.2:c.158+12347T>G	ENSP00000483275.2:n.158+12347T>G
ENST00000613374.5:c.158+12347T>G	ENSP00000484464.1:n.158+12347T>G
ENST00000613706.5:c.211T>G	ENSP00000484976.2:p.Cys71Gly
ENST00000617164.5:c.159-4620T>G	ENSP00000480470.1:n.159-4620T>G
ENST00000619009.5:c.211T>G	ENSP00000482293.1:p.Cys71Gly
ENST00000650978.1:c.53T>G
ENST00000260947.8:c.211T>G	ENSP00000260947.4:p.Cys71Gly
ENST00000421162.1:c.211T>G	ENSP00000392245.1:p.Cys71Gly
ENST00000455743.5:c.211T>G	ENSP00000412186.1:p.Cys71Gly
ENST00000471787.1:n.259+12347T>G
ENST00000479904.1:n.302T>G
ENST00000613192.1:c.73+12347T>G	ENSP00000483275.1:n.73+12347T>G
ENST00000613374.4:c.158+12347T>G	ENSP00000484464.1:n.158+12347T>G
ENST00000613706.4:c.211T>G	ENSP00000484976.1:p.Cys71Gly
ENST00000617164.4:c.159-4620T>G	ENSP00000480470.1:n.159-4620T>G
ENST00000619009.4:c.211T>G	ENSP00000482293.1:p.Cys71Gly
ENST00000620057.4:c.211T>G	ENSP00000481988.1:p.Cys71Gly
NM_000465.3:c.211T>G	NP_000456.2:p.Cys71Gly
NM_001282543.1:c.159-4620T>G	NP_001269472.1:n.159-4620T>G
NM_001282545.1:c.211T>G	NP_001269474.1:p.Cys71Gly
NM_001282548.1:c.158+12347T>G	NP_001269477.1:n.158+12347T>G
NM_001282549.1:c.211T>G	NP_001269478.1:p.Cys71Gly
NR_104212.1:n.353T>G
NR_104215.1:n.300+12347T>G
NR_104216.1:n.353T>G
XM_011511567.1:c.157T>G	XP_011509869.1:p.Cys53Gly
XM_011511568.1:c.211T>G	XP_011509870.1:p.Cys71Gly
XM_017004613.1:c.211T>G	XP_016860102.1:p.Cys71Gly
XM_017004614.1:c.211T>G	XP_016860103.1:p.Cys71Gly
XR_002959322.1:n.302T>G
NM_000465.4:c.211T>G MANE Select	NP_000456.2:p.Cys71Gly
NM_001282543.2:c.159-4620T>G	NP_001269472.1:n.159-4620T>G
NM_001282545.2:c.211T>G	NP_001269474.1:p.Cys71Gly
NM_001282548.2:c.158+12347T>G	NP_001269477.1:n.158+12347T>G
NM_001282549.2:c.211T>G	NP_001269478.1:p.Cys71Gly
NR_104212.2:n.325T>G
NR_104215.2:n.272+12347T>G
NR_104216.2:n.325T>G