Canonical Allele Identifier: CA350449717

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593420A>T (hg19) ; chr2:g.214728696A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728696A>T , CM000664.2:g.214728696A>T	GRCh38
NC_000002.11:g.215593420A>T , CM000664.1:g.215593420A>T	GRCh37
NC_000002.10:g.215301665A>T	NCBI36
NG_012047.2:g.86009T>A
NG_012047.3:g.86016T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2314T>A MANE Select	ENSP00000260947.4:p.Leu772Met
ENST00000421162.2:c.961T>A	ENSP00000392245.2:p.Leu321Met
ENST00000613192.2:c.*377T>A	ENSP00000483275.2:n.*377T>A
ENST00000613374.5:c.904T>A	ENSP00000484464.1:p.Leu302Met
ENST00000613706.5:c.1906T>A	ENSP00000484976.2:p.Leu636Met
ENST00000617164.5:c.2257T>A	ENSP00000480470.1:p.Leu753Met
ENST00000619009.5:c.775T>A	ENSP00000482293.1:p.Leu259Met
ENST00000650978.1:c.3689T>A
ENST00000260947.8:c.2314T>A	ENSP00000260947.4:p.Leu772Met
ENST00000432456.5:c.457T>A
ENST00000471590.5:n.649T>A
ENST00000613192.1:c.484T>A	ENSP00000483275.1:p.Leu162Met
ENST00000613374.4:c.904T>A	ENSP00000484464.1:p.Leu302Met
ENST00000613706.4:c.961T>A	ENSP00000484976.1:p.Leu321Met
ENST00000617164.4:c.2257T>A	ENSP00000480470.1:p.Leu753Met
ENST00000619009.4:c.775T>A	ENSP00000482293.1:p.Leu259Met
ENST00000620057.4:c.*980T>A	ENSP00000481988.1:n.*980T>A
NM_000465.3:c.2314T>A	NP_000456.2:p.Leu772Met
NM_001282543.1:c.2257T>A	NP_001269472.1:p.Leu753Met
NM_001282545.1:c.961T>A	NP_001269474.1:p.Leu321Met
NM_001282548.1:c.904T>A	NP_001269477.1:p.Leu302Met
NM_001282549.1:c.775T>A	NP_001269478.1:p.Leu259Met
NR_104212.1:n.2307T>A
NR_104215.1:n.2250T>A
NR_104216.1:n.1506T>A
XM_011511567.1:c.2260T>A	XP_011509869.1:p.Leu754Met
XM_017004613.1:c.2413T>A	XP_016860102.1:p.Leu805Met
XR_002959322.1:n.2680T>A
NM_000465.4:c.2314T>A MANE Select	NP_000456.2:p.Leu772Met
NM_001282543.2:c.2257T>A	NP_001269472.1:p.Leu753Met
NM_001282545.2:c.961T>A	NP_001269474.1:p.Leu321Met
NM_001282548.2:c.904T>A	NP_001269477.1:p.Leu302Met
NM_001282549.2:c.775T>A	NP_001269478.1:p.Leu259Met
NR_104212.2:n.2279T>A
NR_104215.2:n.2222T>A
NR_104216.2:n.1478T>A