Canonical Allele Identifier: CA350450085

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593503T>G (hg19) ; chr2:g.214728779T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728779T>G , CM000664.2:g.214728779T>G	GRCh38
NC_000002.11:g.215593503T>G , CM000664.1:g.215593503T>G	GRCh37
NC_000002.10:g.215301748T>G	NCBI36
NG_012047.2:g.85926A>C
NG_012047.3:g.85933A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2231A>C MANE Select	ENSP00000260947.4:p.Asn744Thr
ENST00000421162.2:c.878A>C	ENSP00000392245.2:p.Asn293Thr
ENST00000613192.2:c.*294A>C	ENSP00000483275.2:n.*294A>C
ENST00000613374.5:c.821A>C	ENSP00000484464.1:p.Asn274Thr
ENST00000613706.5:c.1823A>C	ENSP00000484976.2:p.Asn608Thr
ENST00000617164.5:c.2174A>C	ENSP00000480470.1:p.Asn725Thr
ENST00000619009.5:c.692A>C	ENSP00000482293.1:p.Asn231Thr
ENST00000650978.1:c.3606A>C
ENST00000260947.8:c.2231A>C	ENSP00000260947.4:p.Asn744Thr
ENST00000432456.5:c.374A>C
ENST00000455743.5:c.*1851A>C	ENSP00000412186.1:n.*1851A>C
ENST00000471590.5:n.566A>C
ENST00000613192.1:c.401A>C	ENSP00000483275.1:p.Asn134Thr
ENST00000613374.4:c.821A>C	ENSP00000484464.1:p.Asn274Thr
ENST00000613706.4:c.878A>C	ENSP00000484976.1:p.Asn293Thr
ENST00000617164.4:c.2174A>C	ENSP00000480470.1:p.Asn725Thr
ENST00000619009.4:c.692A>C	ENSP00000482293.1:p.Asn231Thr
ENST00000620057.4:c.*897A>C	ENSP00000481988.1:n.*897A>C
NM_000465.3:c.2231A>C	NP_000456.2:p.Asn744Thr
NM_001282543.1:c.2174A>C	NP_001269472.1:p.Asn725Thr
NM_001282545.1:c.878A>C	NP_001269474.1:p.Asn293Thr
NM_001282548.1:c.821A>C	NP_001269477.1:p.Asn274Thr
NM_001282549.1:c.692A>C	NP_001269478.1:p.Asn231Thr
NR_104212.1:n.2224A>C
NR_104215.1:n.2167A>C
NR_104216.1:n.1423A>C
XM_011511567.1:c.2177A>C	XP_011509869.1:p.Asn726Thr
XM_017004613.1:c.2330A>C	XP_016860102.1:p.Asn777Thr
XR_002959322.1:n.2597A>C
NM_000465.4:c.2231A>C MANE Select	NP_000456.2:p.Asn744Thr
NM_001282543.2:c.2174A>C	NP_001269472.1:p.Asn725Thr
NM_001282545.2:c.878A>C	NP_001269474.1:p.Asn293Thr
NM_001282548.2:c.821A>C	NP_001269477.1:p.Asn274Thr
NM_001282549.2:c.692A>C	NP_001269478.1:p.Asn231Thr
NR_104212.2:n.2196A>C
NR_104215.2:n.2139A>C
NR_104216.2:n.1395A>C