Canonical Allele Identifier: CA350452055

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215609796A>C (hg19) ; chr2:g.214745072A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745072A>C , CM000664.2:g.214745072A>C	GRCh38
NC_000002.11:g.215609796A>C , CM000664.1:g.215609796A>C	GRCh37
NC_000002.10:g.215318041A>C	NCBI36
NG_012047.2:g.69633T>G
NG_012047.3:g.69640T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1898T>G MANE Select	ENSP00000260947.4:p.Phe633Cys
ENST00000421162.2:c.545T>G	ENSP00000392245.2:p.Phe182Cys
ENST00000613192.2:c.159-14564T>G	ENSP00000483275.2:n.159-14564T>G
ENST00000613374.5:c.488T>G	ENSP00000484464.1:p.Phe163Cys
ENST00000613706.5:c.1490T>G	ENSP00000484976.2:p.Phe497Cys
ENST00000617164.5:c.1841T>G	ENSP00000480470.1:p.Phe614Cys
ENST00000619009.5:c.365-14564T>G	ENSP00000482293.1:n.365-14564T>G
ENST00000650978.1:c.3273T>G
ENST00000260947.8:c.1898T>G	ENSP00000260947.4:p.Phe633Cys
ENST00000421162.1:c.545T>G	ENSP00000392245.1:p.Phe182Cys
ENST00000455743.5:c.*1518T>G	ENSP00000412186.1:n.*1518T>G
ENST00000613192.1:c.74-14564T>G	ENSP00000483275.1:n.74-14564T>G
ENST00000613374.4:c.488T>G	ENSP00000484464.1:p.Phe163Cys
ENST00000613706.4:c.545T>G	ENSP00000484976.1:p.Phe182Cys
ENST00000617164.4:c.1841T>G	ENSP00000480470.1:p.Phe614Cys
ENST00000619009.4:c.365-14564T>G	ENSP00000482293.1:n.365-14564T>G
ENST00000620057.4:c.*564T>G	ENSP00000481988.1:n.*564T>G
NM_000465.3:c.1898T>G	NP_000456.2:p.Phe633Cys
NM_001282543.1:c.1841T>G	NP_001269472.1:p.Phe614Cys
NM_001282545.1:c.545T>G	NP_001269474.1:p.Phe182Cys
NM_001282548.1:c.488T>G	NP_001269477.1:p.Phe163Cys
NM_001282549.1:c.365-14564T>G	NP_001269478.1:n.365-14564T>G
NR_104212.1:n.1891T>G
NR_104215.1:n.1834T>G
NR_104216.1:n.1090T>G
XM_011511567.1:c.1844T>G	XP_011509869.1:p.Phe615Cys
XM_011511568.1:c.1898T>G	XP_011509870.1:p.Phe633Cys
XM_017004613.1:c.1997T>G	XP_016860102.1:p.Phe666Cys
XM_017004614.1:c.1997T>G	XP_016860103.1:p.Phe666Cys
XR_002959322.1:n.2088T>G
NM_000465.4:c.1898T>G MANE Select	NP_000456.2:p.Phe633Cys
NM_001282543.2:c.1841T>G	NP_001269472.1:p.Phe614Cys
NM_001282545.2:c.545T>G	NP_001269474.1:p.Phe182Cys
NM_001282548.2:c.488T>G	NP_001269477.1:p.Phe163Cys
NM_001282549.2:c.365-14564T>G	NP_001269478.1:n.365-14564T>G
NR_104212.2:n.1863T>G
NR_104215.2:n.1806T>G
NR_104216.2:n.1062T>G