Canonical Allele Identifier: CA350458332

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1503660
• ClinVar RCV Id: RCV002045487 ; RCV003303621
• dbSNP Id: rs1695034849
• gnomAD v4: 2-214781498-C-A
• MyVariant Identifiers: chr2:g.215646222C>A (hg19) ; chr2:g.214781498C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781498C>A , CM000664.2:g.214781498C>A	GRCh38
NC_000002.11:g.215646222C>A , CM000664.1:g.215646222C>A	GRCh37
NC_000002.10:g.215354467C>A	NCBI36
NG_012047.2:g.33207G>T
NG_012047.3:g.33214G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.376G>T MANE Select	ENSP00000260947.4:p.Asp126Tyr
ENST00000421162.2:c.215+15563G>T	ENSP00000392245.2:n.215+15563G>T
ENST00000613192.2:c.158+27914G>T	ENSP00000483275.2:n.158+27914G>T
ENST00000613374.5:c.158+27914G>T	ENSP00000484464.1:n.158+27914G>T
ENST00000613706.5:c.376G>T	ENSP00000484976.2:p.Asp126Tyr
ENST00000617164.5:c.319G>T	ENSP00000480470.1:p.Asp107Tyr
ENST00000619009.5:c.364+10799G>T	ENSP00000482293.1:n.364+10799G>T
ENST00000650978.1:c.218G>T
ENST00000260947.8:c.376G>T	ENSP00000260947.4:p.Asp126Tyr
ENST00000421162.1:c.215+15563G>T	ENSP00000392245.1:n.215+15563G>T
ENST00000455743.5:c.227G>T	ENSP00000412186.1:p.Arg76Ile
ENST00000471787.1:n.271G>T
ENST00000613192.1:c.73+27914G>T	ENSP00000483275.1:n.73+27914G>T
ENST00000613374.4:c.158+27914G>T	ENSP00000484464.1:n.158+27914G>T
ENST00000613706.4:c.215+15563G>T	ENSP00000484976.1:n.215+15563G>T
ENST00000617164.4:c.319G>T	ENSP00000480470.1:p.Asp107Tyr
ENST00000619009.4:c.364+10799G>T	ENSP00000482293.1:n.364+10799G>T
ENST00000620057.4:c.364+10799G>T	ENSP00000481988.1:n.364+10799G>T
NM_000465.3:c.376G>T	NP_000456.2:p.Asp126Tyr
NM_001282543.1:c.319G>T	NP_001269472.1:p.Asp107Tyr
NM_001282545.1:c.215+15563G>T	NP_001269474.1:n.215+15563G>T
NM_001282548.1:c.158+27914G>T	NP_001269477.1:n.158+27914G>T
NM_001282549.1:c.364+10799G>T	NP_001269478.1:n.364+10799G>T
NR_104212.1:n.369G>T
NR_104215.1:n.312G>T
NR_104216.1:n.506+10799G>T
XM_011511567.1:c.322G>T	XP_011509869.1:p.Asp108Tyr
XM_011511568.1:c.376G>T	XP_011509870.1:p.Asp126Tyr
XM_017004613.1:c.475G>T	XP_016860102.1:p.Asp159Tyr
XM_017004614.1:c.475G>T	XP_016860103.1:p.Asp159Tyr
XR_002959322.1:n.566G>T
NM_000465.4:c.376G>T MANE Select	NP_000456.2:p.Asp126Tyr
NM_001282543.2:c.319G>T	NP_001269472.1:p.Asp107Tyr
NM_001282545.2:c.215+15563G>T	NP_001269474.1:n.215+15563G>T
NM_001282548.2:c.158+27914G>T	NP_001269477.1:n.158+27914G>T
NM_001282549.2:c.364+10799G>T	NP_001269478.1:n.364+10799G>T
NR_104212.2:n.341G>T
NR_104215.2:n.284G>T
NR_104216.2:n.478+10799G>T