Canonical Allele Identifier: CA350449617

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2679923
• ClinVar RCV Id: RCV003464986
• MyVariant Identifiers: chr2:g.215593403G>C (hg19) ; chr2:g.214728679G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728679G>C , CM000664.2:g.214728679G>C	GRCh38
NC_000002.11:g.215593403G>C , CM000664.1:g.215593403G>C	GRCh37
NC_000002.10:g.215301648G>C	NCBI36
NG_012047.2:g.86026C>G
NG_012047.3:g.86033C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2331C>G MANE Select	ENSP00000260947.4:p.Ser777Arg
ENST00000421162.2:c.978C>G	ENSP00000392245.2:p.Ser326Arg
ENST00000613192.2:c.*394C>G	ENSP00000483275.2:n.*394C>G
ENST00000613374.5:c.921C>G	ENSP00000484464.1:p.Ser307Arg
ENST00000613706.5:c.1923C>G	ENSP00000484976.2:p.Ser641Arg
ENST00000617164.5:c.2274C>G	ENSP00000480470.1:p.Ser758Arg
ENST00000619009.5:c.792C>G	ENSP00000482293.1:p.Ser264Arg
ENST00000650978.1:c.3706C>G
ENST00000260947.8:c.2331C>G	ENSP00000260947.4:p.Ser777Arg
ENST00000432456.5:c.474C>G
ENST00000471590.5:n.666C>G
ENST00000613192.1:c.501C>G	ENSP00000483275.1:p.Ser167Arg
ENST00000613374.4:c.921C>G	ENSP00000484464.1:p.Ser307Arg
ENST00000613706.4:c.978C>G	ENSP00000484976.1:p.Ser326Arg
ENST00000617164.4:c.2274C>G	ENSP00000480470.1:p.Ser758Arg
ENST00000619009.4:c.792C>G	ENSP00000482293.1:p.Ser264Arg
ENST00000620057.4:c.*997C>G	ENSP00000481988.1:n.*997C>G
NM_000465.3:c.2331C>G	NP_000456.2:p.Ser777Arg
NM_001282543.1:c.2274C>G	NP_001269472.1:p.Ser758Arg
NM_001282545.1:c.978C>G	NP_001269474.1:p.Ser326Arg
NM_001282548.1:c.921C>G	NP_001269477.1:p.Ser307Arg
NM_001282549.1:c.792C>G	NP_001269478.1:p.Ser264Arg
NR_104212.1:n.2324C>G
NR_104215.1:n.2267C>G
NR_104216.1:n.1523C>G
XM_011511567.1:c.2277C>G	XP_011509869.1:p.Ser759Arg
XM_017004613.1:c.2430C>G	XP_016860102.1:p.Ser810Arg
XR_002959322.1:n.2697C>G
NM_000465.4:c.2331C>G MANE Select	NP_000456.2:p.Ser777Arg
NM_001282543.2:c.2274C>G	NP_001269472.1:p.Ser758Arg
NM_001282545.2:c.978C>G	NP_001269474.1:p.Ser326Arg
NM_001282548.2:c.921C>G	NP_001269477.1:p.Ser307Arg
NM_001282549.2:c.792C>G	NP_001269478.1:p.Ser264Arg
NR_104212.2:n.2296C>G
NR_104215.2:n.2239C>G
NR_104216.2:n.1495C>G