Canonical Allele Identifier: CA350449896

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2421054
• ClinVar RCV Id: RCV003112714
• gnomAD v4: 2-214728724-C-G
• MyVariant Identifiers: chr2:g.215593448C>G (hg19) ; chr2:g.214728724C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728724C>G , CM000664.2:g.214728724C>G	GRCh38
NC_000002.11:g.215593448C>G , CM000664.1:g.215593448C>G	GRCh37
NC_000002.10:g.215301693C>G	NCBI36
NG_012047.2:g.85981G>C
NG_012047.3:g.85988G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2286G>C MANE Select	ENSP00000260947.4:p.Trp762Cys
ENST00000421162.2:c.933G>C	ENSP00000392245.2:p.Trp311Cys
ENST00000613192.2:c.*349G>C	ENSP00000483275.2:n.*349G>C
ENST00000613374.5:c.876G>C	ENSP00000484464.1:p.Trp292Cys
ENST00000613706.5:c.1878G>C	ENSP00000484976.2:p.Trp626Cys
ENST00000617164.5:c.2229G>C	ENSP00000480470.1:p.Trp743Cys
ENST00000619009.5:c.747G>C	ENSP00000482293.1:p.Trp249Cys
ENST00000650978.1:c.3661G>C
ENST00000260947.8:c.2286G>C	ENSP00000260947.4:p.Trp762Cys
ENST00000432456.5:c.429G>C
ENST00000455743.5:c.*1906G>C	ENSP00000412186.1:n.*1906G>C
ENST00000471590.5:n.621G>C
ENST00000613192.1:c.456G>C	ENSP00000483275.1:p.Trp152Cys
ENST00000613374.4:c.876G>C	ENSP00000484464.1:p.Trp292Cys
ENST00000613706.4:c.933G>C	ENSP00000484976.1:p.Trp311Cys
ENST00000617164.4:c.2229G>C	ENSP00000480470.1:p.Trp743Cys
ENST00000619009.4:c.747G>C	ENSP00000482293.1:p.Trp249Cys
ENST00000620057.4:c.*952G>C	ENSP00000481988.1:n.*952G>C
NM_000465.3:c.2286G>C	NP_000456.2:p.Trp762Cys
NM_001282543.1:c.2229G>C	NP_001269472.1:p.Trp743Cys
NM_001282545.1:c.933G>C	NP_001269474.1:p.Trp311Cys
NM_001282548.1:c.876G>C	NP_001269477.1:p.Trp292Cys
NM_001282549.1:c.747G>C	NP_001269478.1:p.Trp249Cys
NR_104212.1:n.2279G>C
NR_104215.1:n.2222G>C
NR_104216.1:n.1478G>C
XM_011511567.1:c.2232G>C	XP_011509869.1:p.Trp744Cys
XM_017004613.1:c.2385G>C	XP_016860102.1:p.Trp795Cys
XR_002959322.1:n.2652G>C
NM_000465.4:c.2286G>C MANE Select	NP_000456.2:p.Trp762Cys
NM_001282543.2:c.2229G>C	NP_001269472.1:p.Trp743Cys
NM_001282545.2:c.933G>C	NP_001269474.1:p.Trp311Cys
NM_001282548.2:c.876G>C	NP_001269477.1:p.Trp292Cys
NM_001282549.2:c.747G>C	NP_001269478.1:p.Trp249Cys
NR_104212.2:n.2251G>C
NR_104215.2:n.2194G>C
NR_104216.2:n.1450G>C