Canonical Allele Identifier: CA431135745

Gene: BARD1

Linked Data

• ClinVar Variation Id: 825378
• ClinVar RCV Id: RCV001023433 ; RCV001495472
• dbSNP Id: rs1574821214
• gnomAD v4: 2-214781373-A-T
• MyVariant Identifiers: chr2:g.215646097A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781373A>T , CM000664.2:g.214781373A>T	GRCh38
NC_000002.11:g.215646097A>T , CM000664.1:g.215646097A>T	GRCh37
NC_000002.10:g.215354342A>T	NCBI36
NG_012047.2:g.33332T>A
NG_012047.3:g.33339T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.501T>A MANE Select	ENSP00000260947.4:p.Pro167=
ENST00000421162.2:c.215+15688T>A	ENSP00000392245.2:n.215+15688T>A
ENST00000613192.2:c.158+28039T>A	ENSP00000483275.2:n.158+28039T>A
ENST00000613374.5:c.158+28039T>A	ENSP00000484464.1:n.158+28039T>A
ENST00000613706.5:c.501T>A	ENSP00000484976.2:p.Pro167=
ENST00000617164.5:c.444T>A	ENSP00000480470.1:p.Pro148=
ENST00000619009.5:c.364+10924T>A	ENSP00000482293.1:n.364+10924T>A
ENST00000650978.1:c.343T>A
ENST00000260947.8:c.501T>A	ENSP00000260947.4:p.Pro167=
ENST00000421162.1:c.215+15688T>A	ENSP00000392245.1:n.215+15688T>A
ENST00000455743.5:c.*121T>A	ENSP00000412186.1:n.*121T>A
ENST00000471787.1:n.396T>A
ENST00000613192.1:c.73+28039T>A	ENSP00000483275.1:n.73+28039T>A
ENST00000613374.4:c.158+28039T>A	ENSP00000484464.1:n.158+28039T>A
ENST00000613706.4:c.215+15688T>A	ENSP00000484976.1:n.215+15688T>A
ENST00000617164.4:c.444T>A	ENSP00000480470.1:p.Pro148=
ENST00000619009.4:c.364+10924T>A	ENSP00000482293.1:n.364+10924T>A
ENST00000620057.4:c.364+10924T>A	ENSP00000481988.1:n.364+10924T>A
NM_000465.3:c.501T>A	NP_000456.2:p.Pro167=
NM_001282543.1:c.444T>A	NP_001269472.1:p.Pro148=
NM_001282545.1:c.215+15688T>A	NP_001269474.1:n.215+15688T>A
NM_001282548.1:c.158+28039T>A	NP_001269477.1:n.158+28039T>A
NM_001282549.1:c.364+10924T>A	NP_001269478.1:n.364+10924T>A
NR_104212.1:n.494T>A
NR_104215.1:n.437T>A
NR_104216.1:n.506+10924T>A
XM_011511567.1:c.447T>A	XP_011509869.1:p.Pro149=
XM_011511568.1:c.501T>A	XP_011509870.1:p.Pro167=
XM_017004613.1:c.600T>A	XP_016860102.1:p.Pro200=
XM_017004614.1:c.600T>A	XP_016860103.1:p.Pro200=
XR_002959322.1:n.691T>A
NM_000465.4:c.501T>A MANE Select	NP_000456.2:p.Pro167=
NM_001282543.2:c.444T>A	NP_001269472.1:p.Pro148=
NM_001282545.2:c.215+15688T>A	NP_001269474.1:n.215+15688T>A
NM_001282548.2:c.158+28039T>A	NP_001269477.1:n.158+28039T>A
NM_001282549.2:c.364+10924T>A	NP_001269478.1:n.364+10924T>A
NR_104212.2:n.466T>A
NR_104215.2:n.409T>A
NR_104216.2:n.478+10924T>A