Canonical Allele Identifier: CA350451121

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1058321
• ClinVar RCV Id: RCV001367445
• dbSNP Id: rs2105990473
• MyVariant Identifiers: chr2:g.215595154C>T (hg19) ; chr2:g.214730430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730430C>T , CM000664.2:g.214730430C>T	GRCh38
NC_000002.11:g.215595154C>T , CM000664.1:g.215595154C>T	GRCh37
NC_000002.10:g.215303399C>T	NCBI36
NG_012047.2:g.84275G>A
NG_012047.3:g.84282G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1982G>A MANE Select	ENSP00000260947.4:p.Arg661Lys
ENST00000421162.2:c.629G>A	ENSP00000392245.2:p.Arg210Lys
ENST00000613192.2:c.*45G>A	ENSP00000483275.2:n.*45G>A
ENST00000613374.5:c.572G>A	ENSP00000484464.1:p.Arg191Lys
ENST00000613706.5:c.1574G>A	ENSP00000484976.2:p.Arg525Lys
ENST00000617164.5:c.1925G>A	ENSP00000480470.1:p.Arg642Lys
ENST00000619009.5:c.443G>A	ENSP00000482293.1:p.Arg148Lys
ENST00000650978.1:c.3357G>A
ENST00000260947.8:c.1982G>A	ENSP00000260947.4:p.Arg661Lys
ENST00000421162.1:c.629G>A	ENSP00000392245.1:p.Arg210Lys
ENST00000432456.5:c.79G>A
ENST00000455743.5:c.*1602G>A	ENSP00000412186.1:n.*1602G>A
ENST00000471590.5:n.317G>A
ENST00000613192.1:c.152G>A	ENSP00000483275.1:p.Arg51Lys
ENST00000613374.4:c.572G>A	ENSP00000484464.1:p.Arg191Lys
ENST00000613706.4:c.629G>A	ENSP00000484976.1:p.Arg210Lys
ENST00000617164.4:c.1925G>A	ENSP00000480470.1:p.Arg642Lys
ENST00000619009.4:c.443G>A	ENSP00000482293.1:p.Arg148Lys
ENST00000620057.4:c.*648G>A	ENSP00000481988.1:n.*648G>A
NM_000465.3:c.1982G>A	NP_000456.2:p.Arg661Lys
NM_001282543.1:c.1925G>A	NP_001269472.1:p.Arg642Lys
NM_001282545.1:c.629G>A	NP_001269474.1:p.Arg210Lys
NM_001282548.1:c.572G>A	NP_001269477.1:p.Arg191Lys
NM_001282549.1:c.443G>A	NP_001269478.1:p.Arg148Lys
NR_104212.1:n.1975G>A
NR_104215.1:n.1918G>A
NR_104216.1:n.1174G>A
XM_011511567.1:c.1928G>A	XP_011509869.1:p.Arg643Lys
XM_017004613.1:c.2081G>A	XP_016860102.1:p.Arg694Lys
XR_002959322.1:n.2172G>A
NM_000465.4:c.1982G>A MANE Select	NP_000456.2:p.Arg661Lys
NM_001282543.2:c.1925G>A	NP_001269472.1:p.Arg642Lys
NM_001282545.2:c.629G>A	NP_001269474.1:p.Arg210Lys
NM_001282548.2:c.572G>A	NP_001269477.1:p.Arg191Lys
NM_001282549.2:c.443G>A	NP_001269478.1:p.Arg148Lys
NR_104212.2:n.1947G>A
NR_104215.2:n.1890G>A
NR_104216.2:n.1146G>A