Canonical Allele Identifier: CA431391906
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1082065
ClinVar RCV Id: RCV001398237
dbSNP Id: rs2106110152
MyVariant Identifiers: chr2:g.215645746C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781022C>T , CM000664.2:g.214781022C>T GRCh38
NC_000002.11:g.215645746C>T , CM000664.1:g.215645746C>T GRCh37
NC_000002.10:g.215353991C>T NCBI36
NG_012047.2:g.33683G>A
NG_012047.3:g.33690G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.852G>A MANE Select ENSP00000260947.4:p.Glu284=
ENST00000421162.2:c.215+16039G>A ENSP00000392245.2:n.215+16039G>A
ENST00000613192.2:c.158+28390G>A ENSP00000483275.2:n.158+28390G>A
ENST00000613374.5:c.158+28390G>A ENSP00000484464.1:n.158+28390G>A
ENST00000613706.5:c.852G>A ENSP00000484976.2:p.Glu284=
ENST00000617164.5:c.795G>A ENSP00000480470.1:p.Glu265=
ENST00000619009.5:c.364+11275G>A ENSP00000482293.1:n.364+11275G>A
ENST00000650978.1:c.694G>A
ENST00000260947.8:c.852G>A ENSP00000260947.4:p.Glu284=
ENST00000421162.1:c.215+16039G>A ENSP00000392245.1:n.215+16039G>A
ENST00000455743.5:c.*472G>A ENSP00000412186.1:n.*472G>A
ENST00000471787.1:n.747G>A
ENST00000613192.1:c.73+28390G>A ENSP00000483275.1:n.73+28390G>A
ENST00000613374.4:c.158+28390G>A ENSP00000484464.1:n.158+28390G>A
ENST00000613706.4:c.215+16039G>A ENSP00000484976.1:n.215+16039G>A
ENST00000617164.4:c.795G>A ENSP00000480470.1:p.Glu265=
ENST00000619009.4:c.364+11275G>A ENSP00000482293.1:n.364+11275G>A
ENST00000620057.4:c.364+11275G>A ENSP00000481988.1:n.364+11275G>A
NM_000465.3:c.852G>A NP_000456.2:p.Glu284=
NM_001282543.1:c.795G>A NP_001269472.1:p.Glu265=
NM_001282545.1:c.215+16039G>A NP_001269474.1:n.215+16039G>A
NM_001282548.1:c.158+28390G>A NP_001269477.1:n.158+28390G>A
NM_001282549.1:c.364+11275G>A NP_001269478.1:n.364+11275G>A
NR_104212.1:n.845G>A
NR_104215.1:n.788G>A
NR_104216.1:n.506+11275G>A
XM_011511567.1:c.798G>A XP_011509869.1:p.Glu266=
XM_011511568.1:c.852G>A XP_011509870.1:p.Glu284=
XM_017004613.1:c.951G>A XP_016860102.1:p.Glu317=
XM_017004614.1:c.951G>A XP_016860103.1:p.Glu317=
XR_002959322.1:n.1042G>A
NM_000465.4:c.852G>A MANE Select NP_000456.2:p.Glu284=
NM_001282543.2:c.795G>A NP_001269472.1:p.Glu265=
NM_001282545.2:c.215+16039G>A NP_001269474.1:n.215+16039G>A
NM_001282548.2:c.158+28390G>A NP_001269477.1:n.158+28390G>A
NM_001282549.2:c.364+11275G>A NP_001269478.1:n.364+11275G>A
NR_104212.2:n.817G>A
NR_104215.2:n.760G>A
NR_104216.2:n.478+11275G>A