Canonical Allele Identifier: CA350450370

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593558G>T (hg19) ; chr2:g.214728834G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728834G>T , CM000664.2:g.214728834G>T	GRCh38
NC_000002.11:g.215593558G>T , CM000664.1:g.215593558G>T	GRCh37
NC_000002.10:g.215301803G>T	NCBI36
NG_012047.2:g.85871C>A
NG_012047.3:g.85878C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2176C>A MANE Select	ENSP00000260947.4:p.Pro726Thr
ENST00000421162.2:c.823C>A	ENSP00000392245.2:p.Pro275Thr
ENST00000613192.2:c.*239C>A	ENSP00000483275.2:n.*239C>A
ENST00000613374.5:c.766C>A	ENSP00000484464.1:p.Pro256Thr
ENST00000613706.5:c.1768C>A	ENSP00000484976.2:p.Pro590Thr
ENST00000617164.5:c.2119C>A	ENSP00000480470.1:p.Pro707Thr
ENST00000619009.5:c.637C>A	ENSP00000482293.1:p.Pro213Thr
ENST00000650978.1:c.3551C>A
ENST00000260947.8:c.2176C>A	ENSP00000260947.4:p.Pro726Thr
ENST00000432456.5:c.319C>A
ENST00000455743.5:c.*1796C>A	ENSP00000412186.1:n.*1796C>A
ENST00000471590.5:n.511C>A
ENST00000613192.1:c.346C>A	ENSP00000483275.1:p.Pro116Thr
ENST00000613374.4:c.766C>A	ENSP00000484464.1:p.Pro256Thr
ENST00000613706.4:c.823C>A	ENSP00000484976.1:p.Pro275Thr
ENST00000617164.4:c.2119C>A	ENSP00000480470.1:p.Pro707Thr
ENST00000619009.4:c.637C>A	ENSP00000482293.1:p.Pro213Thr
ENST00000620057.4:c.*842C>A	ENSP00000481988.1:n.*842C>A
NM_000465.3:c.2176C>A	NP_000456.2:p.Pro726Thr
NM_001282543.1:c.2119C>A	NP_001269472.1:p.Pro707Thr
NM_001282545.1:c.823C>A	NP_001269474.1:p.Pro275Thr
NM_001282548.1:c.766C>A	NP_001269477.1:p.Pro256Thr
NM_001282549.1:c.637C>A	NP_001269478.1:p.Pro213Thr
NR_104212.1:n.2169C>A
NR_104215.1:n.2112C>A
NR_104216.1:n.1368C>A
XM_011511567.1:c.2122C>A	XP_011509869.1:p.Pro708Thr
XM_017004613.1:c.2275C>A	XP_016860102.1:p.Pro759Thr
XR_002959322.1:n.2542C>A
NM_000465.4:c.2176C>A MANE Select	NP_000456.2:p.Pro726Thr
NM_001282543.2:c.2119C>A	NP_001269472.1:p.Pro707Thr
NM_001282545.2:c.823C>A	NP_001269474.1:p.Pro275Thr
NM_001282548.2:c.766C>A	NP_001269477.1:p.Pro256Thr
NM_001282549.2:c.637C>A	NP_001269478.1:p.Pro213Thr
NR_104212.2:n.2141C>A
NR_104215.2:n.2084C>A
NR_104216.2:n.1340C>A