Canonical Allele Identifier: CA431391867

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1764063
• ClinVar RCV Id: RCV002371148
• gnomAD v4: 2-214781013-C-T
• MyVariant Identifiers: chr2:g.215645737C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781013C>T , CM000664.2:g.214781013C>T	GRCh38
NC_000002.11:g.215645737C>T , CM000664.1:g.215645737C>T	GRCh37
NC_000002.10:g.215353982C>T	NCBI36
NG_012047.2:g.33692G>A
NG_012047.3:g.33699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.861G>A MANE Select	ENSP00000260947.4:p.Glu287=
ENST00000421162.2:c.215+16048G>A	ENSP00000392245.2:n.215+16048G>A
ENST00000613192.2:c.158+28399G>A	ENSP00000483275.2:n.158+28399G>A
ENST00000613374.5:c.158+28399G>A	ENSP00000484464.1:n.158+28399G>A
ENST00000613706.5:c.861G>A	ENSP00000484976.2:p.Glu287=
ENST00000617164.5:c.804G>A	ENSP00000480470.1:p.Glu268=
ENST00000619009.5:c.364+11284G>A	ENSP00000482293.1:n.364+11284G>A
ENST00000650978.1:c.703G>A
ENST00000260947.8:c.861G>A	ENSP00000260947.4:p.Glu287=
ENST00000421162.1:c.215+16048G>A	ENSP00000392245.1:n.215+16048G>A
ENST00000455743.5:c.*481G>A	ENSP00000412186.1:n.*481G>A
ENST00000471787.1:n.756G>A
ENST00000613192.1:c.73+28399G>A	ENSP00000483275.1:n.73+28399G>A
ENST00000613374.4:c.158+28399G>A	ENSP00000484464.1:n.158+28399G>A
ENST00000613706.4:c.215+16048G>A	ENSP00000484976.1:n.215+16048G>A
ENST00000617164.4:c.804G>A	ENSP00000480470.1:p.Glu268=
ENST00000619009.4:c.364+11284G>A	ENSP00000482293.1:n.364+11284G>A
ENST00000620057.4:c.364+11284G>A	ENSP00000481988.1:n.364+11284G>A
NM_000465.3:c.861G>A	NP_000456.2:p.Glu287=
NM_001282543.1:c.804G>A	NP_001269472.1:p.Glu268=
NM_001282545.1:c.215+16048G>A	NP_001269474.1:n.215+16048G>A
NM_001282548.1:c.158+28399G>A	NP_001269477.1:n.158+28399G>A
NM_001282549.1:c.364+11284G>A	NP_001269478.1:n.364+11284G>A
NR_104212.1:n.854G>A
NR_104215.1:n.797G>A
NR_104216.1:n.506+11284G>A
XM_011511567.1:c.807G>A	XP_011509869.1:p.Glu269=
XM_011511568.1:c.861G>A	XP_011509870.1:p.Glu287=
XM_017004613.1:c.960G>A	XP_016860102.1:p.Glu320=
XM_017004614.1:c.960G>A	XP_016860103.1:p.Glu320=
XR_002959322.1:n.1051G>A
NM_000465.4:c.861G>A MANE Select	NP_000456.2:p.Glu287=
NM_001282543.2:c.804G>A	NP_001269472.1:p.Glu268=
NM_001282545.2:c.215+16048G>A	NP_001269474.1:n.215+16048G>A
NM_001282548.2:c.158+28399G>A	NP_001269477.1:n.158+28399G>A
NM_001282549.2:c.364+11284G>A	NP_001269478.1:n.364+11284G>A
NR_104212.2:n.826G>A
NR_104215.2:n.769G>A
NR_104216.2:n.478+11284G>A