Canonical Allele Identifier: CA350449746

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593425A>T (hg19) ; chr2:g.214728701A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728701A>T , CM000664.2:g.214728701A>T	GRCh38
NC_000002.11:g.215593425A>T , CM000664.1:g.215593425A>T	GRCh37
NC_000002.10:g.215301670A>T	NCBI36
NG_012047.2:g.86004T>A
NG_012047.3:g.86011T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2309T>A MANE Select	ENSP00000260947.4:p.Phe770Tyr
ENST00000421162.2:c.956T>A	ENSP00000392245.2:p.Phe319Tyr
ENST00000613192.2:c.*372T>A	ENSP00000483275.2:n.*372T>A
ENST00000613374.5:c.899T>A	ENSP00000484464.1:p.Phe300Tyr
ENST00000613706.5:c.1901T>A	ENSP00000484976.2:p.Phe634Tyr
ENST00000617164.5:c.2252T>A	ENSP00000480470.1:p.Phe751Tyr
ENST00000619009.5:c.770T>A	ENSP00000482293.1:p.Phe257Tyr
ENST00000650978.1:c.3684T>A
ENST00000260947.8:c.2309T>A	ENSP00000260947.4:p.Phe770Tyr
ENST00000432456.5:c.452T>A
ENST00000471590.5:n.644T>A
ENST00000613192.1:c.479T>A	ENSP00000483275.1:p.Phe160Tyr
ENST00000613374.4:c.899T>A	ENSP00000484464.1:p.Phe300Tyr
ENST00000613706.4:c.956T>A	ENSP00000484976.1:p.Phe319Tyr
ENST00000617164.4:c.2252T>A	ENSP00000480470.1:p.Phe751Tyr
ENST00000619009.4:c.770T>A	ENSP00000482293.1:p.Phe257Tyr
ENST00000620057.4:c.*975T>A	ENSP00000481988.1:n.*975T>A
NM_000465.3:c.2309T>A	NP_000456.2:p.Phe770Tyr
NM_001282543.1:c.2252T>A	NP_001269472.1:p.Phe751Tyr
NM_001282545.1:c.956T>A	NP_001269474.1:p.Phe319Tyr
NM_001282548.1:c.899T>A	NP_001269477.1:p.Phe300Tyr
NM_001282549.1:c.770T>A	NP_001269478.1:p.Phe257Tyr
NR_104212.1:n.2302T>A
NR_104215.1:n.2245T>A
NR_104216.1:n.1501T>A
XM_011511567.1:c.2255T>A	XP_011509869.1:p.Phe752Tyr
XM_017004613.1:c.2408T>A	XP_016860102.1:p.Phe803Tyr
XR_002959322.1:n.2675T>A
NM_000465.4:c.2309T>A MANE Select	NP_000456.2:p.Phe770Tyr
NM_001282543.2:c.2252T>A	NP_001269472.1:p.Phe751Tyr
NM_001282545.2:c.956T>A	NP_001269474.1:p.Phe319Tyr
NM_001282548.2:c.899T>A	NP_001269477.1:p.Phe300Tyr
NM_001282549.2:c.770T>A	NP_001269478.1:p.Phe257Tyr
NR_104212.2:n.2274T>A
NR_104215.2:n.2217T>A
NR_104216.2:n.1473T>A