Canonical Allele Identifier: CA350450104

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593507A>T (hg19) ; chr2:g.214728783A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728783A>T , CM000664.2:g.214728783A>T	GRCh38
NC_000002.11:g.215593507A>T , CM000664.1:g.215593507A>T	GRCh37
NC_000002.10:g.215301752A>T	NCBI36
NG_012047.2:g.85922T>A
NG_012047.3:g.85929T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2227T>A MANE Select	ENSP00000260947.4:p.Cys743Ser
ENST00000421162.2:c.874T>A	ENSP00000392245.2:p.Cys292Ser
ENST00000613192.2:c.*290T>A	ENSP00000483275.2:n.*290T>A
ENST00000613374.5:c.817T>A	ENSP00000484464.1:p.Cys273Ser
ENST00000613706.5:c.1819T>A	ENSP00000484976.2:p.Cys607Ser
ENST00000617164.5:c.2170T>A	ENSP00000480470.1:p.Cys724Ser
ENST00000619009.5:c.688T>A	ENSP00000482293.1:p.Cys230Ser
ENST00000650978.1:c.3602T>A
ENST00000260947.8:c.2227T>A	ENSP00000260947.4:p.Cys743Ser
ENST00000432456.5:c.370T>A
ENST00000455743.5:c.*1847T>A	ENSP00000412186.1:n.*1847T>A
ENST00000471590.5:n.562T>A
ENST00000613192.1:c.397T>A	ENSP00000483275.1:p.Cys133Ser
ENST00000613374.4:c.817T>A	ENSP00000484464.1:p.Cys273Ser
ENST00000613706.4:c.874T>A	ENSP00000484976.1:p.Cys292Ser
ENST00000617164.4:c.2170T>A	ENSP00000480470.1:p.Cys724Ser
ENST00000619009.4:c.688T>A	ENSP00000482293.1:p.Cys230Ser
ENST00000620057.4:c.*893T>A	ENSP00000481988.1:n.*893T>A
NM_000465.3:c.2227T>A	NP_000456.2:p.Cys743Ser
NM_001282543.1:c.2170T>A	NP_001269472.1:p.Cys724Ser
NM_001282545.1:c.874T>A	NP_001269474.1:p.Cys292Ser
NM_001282548.1:c.817T>A	NP_001269477.1:p.Cys273Ser
NM_001282549.1:c.688T>A	NP_001269478.1:p.Cys230Ser
NR_104212.1:n.2220T>A
NR_104215.1:n.2163T>A
NR_104216.1:n.1419T>A
XM_011511567.1:c.2173T>A	XP_011509869.1:p.Cys725Ser
XM_017004613.1:c.2326T>A	XP_016860102.1:p.Cys776Ser
XR_002959322.1:n.2593T>A
NM_000465.4:c.2227T>A MANE Select	NP_000456.2:p.Cys743Ser
NM_001282543.2:c.2170T>A	NP_001269472.1:p.Cys724Ser
NM_001282545.2:c.874T>A	NP_001269474.1:p.Cys292Ser
NM_001282548.2:c.817T>A	NP_001269477.1:p.Cys273Ser
NM_001282549.2:c.688T>A	NP_001269478.1:p.Cys230Ser
NR_104212.2:n.2192T>A
NR_104215.2:n.2135T>A
NR_104216.2:n.1391T>A