Canonical Allele Identifier: CA431136483

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1738482
• ClinVar RCV Id: RCV002333461
• gnomAD v4: 2-214781457-C-T
• MyVariant Identifiers: chr2:g.215646181C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781457C>T , CM000664.2:g.214781457C>T	GRCh38
NC_000002.11:g.215646181C>T , CM000664.1:g.215646181C>T	GRCh37
NC_000002.10:g.215354426C>T	NCBI36
NG_012047.2:g.33248G>A
NG_012047.3:g.33255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.417G>A MANE Select	ENSP00000260947.4:p.Lys139=
ENST00000421162.2:c.215+15604G>A	ENSP00000392245.2:n.215+15604G>A
ENST00000613192.2:c.158+27955G>A	ENSP00000483275.2:n.158+27955G>A
ENST00000613374.5:c.158+27955G>A	ENSP00000484464.1:n.158+27955G>A
ENST00000613706.5:c.417G>A	ENSP00000484976.2:p.Lys139=
ENST00000617164.5:c.360G>A	ENSP00000480470.1:p.Lys120=
ENST00000619009.5:c.364+10840G>A	ENSP00000482293.1:n.364+10840G>A
ENST00000650978.1:c.259G>A
ENST00000260947.8:c.417G>A	ENSP00000260947.4:p.Lys139=
ENST00000421162.1:c.215+15604G>A	ENSP00000392245.1:n.215+15604G>A
ENST00000455743.5:c.*37G>A	ENSP00000412186.1:n.*37G>A
ENST00000471787.1:n.312G>A
ENST00000613192.1:c.73+27955G>A	ENSP00000483275.1:n.73+27955G>A
ENST00000613374.4:c.158+27955G>A	ENSP00000484464.1:n.158+27955G>A
ENST00000613706.4:c.215+15604G>A	ENSP00000484976.1:n.215+15604G>A
ENST00000617164.4:c.360G>A	ENSP00000480470.1:p.Lys120=
ENST00000619009.4:c.364+10840G>A	ENSP00000482293.1:n.364+10840G>A
ENST00000620057.4:c.364+10840G>A	ENSP00000481988.1:n.364+10840G>A
NM_000465.3:c.417G>A	NP_000456.2:p.Lys139=
NM_001282543.1:c.360G>A	NP_001269472.1:p.Lys120=
NM_001282545.1:c.215+15604G>A	NP_001269474.1:n.215+15604G>A
NM_001282548.1:c.158+27955G>A	NP_001269477.1:n.158+27955G>A
NM_001282549.1:c.364+10840G>A	NP_001269478.1:n.364+10840G>A
NR_104212.1:n.410G>A
NR_104215.1:n.353G>A
NR_104216.1:n.506+10840G>A
XM_011511567.1:c.363G>A	XP_011509869.1:p.Lys121=
XM_011511568.1:c.417G>A	XP_011509870.1:p.Lys139=
XM_017004613.1:c.516G>A	XP_016860102.1:p.Lys172=
XM_017004614.1:c.516G>A	XP_016860103.1:p.Lys172=
XR_002959322.1:n.607G>A
NM_000465.4:c.417G>A MANE Select	NP_000456.2:p.Lys139=
NM_001282543.2:c.360G>A	NP_001269472.1:p.Lys120=
NM_001282545.2:c.215+15604G>A	NP_001269474.1:n.215+15604G>A
NM_001282548.2:c.158+27955G>A	NP_001269477.1:n.158+27955G>A
NM_001282549.2:c.364+10840G>A	NP_001269478.1:n.364+10840G>A
NR_104212.2:n.382G>A
NR_104215.2:n.325G>A
NR_104216.2:n.478+10840G>A