Canonical Allele Identifier: CA16617449

Gene: BARD1

Linked Data

• ClinVar Variation Id: 421655
• ClinVar RCV Id: RCV000478933
• dbSNP Id: rs1064795276
• MyVariant Identifiers: chr2:g.215645864T>C (hg19) ; chr2:g.214781140T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781140T>C , CM000664.2:g.214781140T>C	GRCh38
NC_000002.11:g.215645864T>C , CM000664.1:g.215645864T>C	GRCh37
NC_000002.10:g.215354109T>C	NCBI36
NG_012047.2:g.33565A>G
NG_012047.3:g.33572A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.734A>G MANE Select	ENSP00000260947.4:p.Gln245Arg
ENST00000421162.2:c.215+15921A>G	ENSP00000392245.2:n.215+15921A>G
ENST00000613192.2:c.158+28272A>G	ENSP00000483275.2:n.158+28272A>G
ENST00000613374.5:c.158+28272A>G	ENSP00000484464.1:n.158+28272A>G
ENST00000613706.5:c.734A>G	ENSP00000484976.2:p.Gln245Arg
ENST00000617164.5:c.677A>G	ENSP00000480470.1:p.Gln226Arg
ENST00000619009.5:c.364+11157A>G	ENSP00000482293.1:n.364+11157A>G
ENST00000650978.1:c.576A>G
ENST00000260947.8:c.734A>G	ENSP00000260947.4:p.Gln245Arg
ENST00000421162.1:c.215+15921A>G	ENSP00000392245.1:n.215+15921A>G
ENST00000455743.5:c.*354A>G	ENSP00000412186.1:n.*354A>G
ENST00000471787.1:n.629A>G
ENST00000613192.1:c.73+28272A>G	ENSP00000483275.1:n.73+28272A>G
ENST00000613374.4:c.158+28272A>G	ENSP00000484464.1:n.158+28272A>G
ENST00000613706.4:c.215+15921A>G	ENSP00000484976.1:n.215+15921A>G
ENST00000617164.4:c.677A>G	ENSP00000480470.1:p.Gln226Arg
ENST00000619009.4:c.364+11157A>G	ENSP00000482293.1:n.364+11157A>G
ENST00000620057.4:c.364+11157A>G	ENSP00000481988.1:n.364+11157A>G
NM_000465.3:c.734A>G	NP_000456.2:p.Gln245Arg
NM_001282543.1:c.677A>G	NP_001269472.1:p.Gln226Arg
NM_001282545.1:c.215+15921A>G	NP_001269474.1:n.215+15921A>G
NM_001282548.1:c.158+28272A>G	NP_001269477.1:n.158+28272A>G
NM_001282549.1:c.364+11157A>G	NP_001269478.1:n.364+11157A>G
NR_104212.1:n.727A>G
NR_104215.1:n.670A>G
NR_104216.1:n.506+11157A>G
XM_011511567.1:c.680A>G	XP_011509869.1:p.Gln227Arg
XM_011511568.1:c.734A>G	XP_011509870.1:p.Gln245Arg
XM_017004613.1:c.833A>G	XP_016860102.1:p.Gln278Arg
XM_017004614.1:c.833A>G	XP_016860103.1:p.Gln278Arg
XR_002959322.1:n.924A>G
NM_000465.4:c.734A>G MANE Select	NP_000456.2:p.Gln245Arg
NM_001282543.2:c.677A>G	NP_001269472.1:p.Gln226Arg
NM_001282545.2:c.215+15921A>G	NP_001269474.1:n.215+15921A>G
NM_001282548.2:c.158+28272A>G	NP_001269477.1:n.158+28272A>G
NM_001282549.2:c.364+11157A>G	NP_001269478.1:n.364+11157A>G
NR_104212.2:n.699A>G
NR_104215.2:n.642A>G
NR_104216.2:n.478+11157A>G