Canonical Allele Identifier: CA190468
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 184919
dbSNP Id: rs747122703

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728775A>G , CM000664.2:g.214728775A>G GRCh38
NC_000002.11:g.215593499A>G , CM000664.1:g.215593499A>G GRCh37
NC_000002.10:g.215301744A>G NCBI36
NG_012047.2:g.85930T>C
NG_012047.3:g.85937T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2235T>C MANE Select ENSP00000260947.4:p.Tyr745=
ENST00000421162.2:c.882T>C ENSP00000392245.2:p.Tyr294=
ENST00000613192.2:c.*298T>C ENSP00000483275.2:n.*298T>C
ENST00000613374.5:c.825T>C ENSP00000484464.1:p.Tyr275=
ENST00000613706.5:c.1827T>C ENSP00000484976.2:p.Tyr609=
ENST00000617164.5:c.2178T>C ENSP00000480470.1:p.Tyr726=
ENST00000619009.5:c.696T>C ENSP00000482293.1:p.Tyr232=
ENST00000650978.1:c.3610T>C
ENST00000260947.8:c.2235T>C ENSP00000260947.4:p.Tyr745=
ENST00000432456.5:c.378T>C
ENST00000455743.5:c.*1855T>C ENSP00000412186.1:n.*1855T>C
ENST00000471590.5:n.570T>C
ENST00000613192.1:c.405T>C ENSP00000483275.1:p.Tyr135=
ENST00000613374.4:c.825T>C ENSP00000484464.1:p.Tyr275=
ENST00000613706.4:c.882T>C ENSP00000484976.1:p.Tyr294=
ENST00000617164.4:c.2178T>C ENSP00000480470.1:p.Tyr726=
ENST00000619009.4:c.696T>C ENSP00000482293.1:p.Tyr232=
ENST00000620057.4:c.*901T>C ENSP00000481988.1:n.*901T>C
NM_000465.3:c.2235T>C NP_000456.2:p.Tyr745=
NM_001282543.1:c.2178T>C NP_001269472.1:p.Tyr726=
NM_001282545.1:c.882T>C NP_001269474.1:p.Tyr294=
NM_001282548.1:c.825T>C NP_001269477.1:p.Tyr275=
NM_001282549.1:c.696T>C NP_001269478.1:p.Tyr232=
NR_104212.1:n.2228T>C
NR_104215.1:n.2171T>C
NR_104216.1:n.1427T>C
XM_011511567.1:c.2181T>C XP_011509869.1:p.Tyr727=
XM_017004613.1:c.2334T>C XP_016860102.1:p.Tyr778=
XR_002959322.1:n.2601T>C
NM_000465.4:c.2235T>C MANE Select NP_000456.2:p.Tyr745=
NM_001282543.2:c.2178T>C NP_001269472.1:p.Tyr726=
NM_001282545.2:c.882T>C NP_001269474.1:p.Tyr294=
NM_001282548.2:c.825T>C NP_001269477.1:p.Tyr275=
NM_001282549.2:c.696T>C NP_001269478.1:p.Tyr232=
NR_104212.2:n.2200T>C
NR_104215.2:n.2143T>C
NR_104216.2:n.1399T>C