Canonical Allele Identifier: CA350449694

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593416A>T (hg19) ; chr2:g.214728692A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728692A>T , CM000664.2:g.214728692A>T	GRCh38
NC_000002.11:g.215593416A>T , CM000664.1:g.215593416A>T	GRCh37
NC_000002.10:g.215301661A>T	NCBI36
NG_012047.2:g.86013T>A
NG_012047.3:g.86020T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2318T>A MANE Select	ENSP00000260947.4:p.Leu773His
ENST00000421162.2:c.965T>A	ENSP00000392245.2:p.Leu322His
ENST00000613192.2:c.*381T>A	ENSP00000483275.2:n.*381T>A
ENST00000613374.5:c.908T>A	ENSP00000484464.1:p.Leu303His
ENST00000613706.5:c.1910T>A	ENSP00000484976.2:p.Leu637His
ENST00000617164.5:c.2261T>A	ENSP00000480470.1:p.Leu754His
ENST00000619009.5:c.779T>A	ENSP00000482293.1:p.Leu260His
ENST00000650978.1:c.3693T>A
ENST00000260947.8:c.2318T>A	ENSP00000260947.4:p.Leu773His
ENST00000432456.5:c.461T>A
ENST00000471590.5:n.653T>A
ENST00000613192.1:c.488T>A	ENSP00000483275.1:p.Leu163His
ENST00000613374.4:c.908T>A	ENSP00000484464.1:p.Leu303His
ENST00000613706.4:c.965T>A	ENSP00000484976.1:p.Leu322His
ENST00000617164.4:c.2261T>A	ENSP00000480470.1:p.Leu754His
ENST00000619009.4:c.779T>A	ENSP00000482293.1:p.Leu260His
ENST00000620057.4:c.*984T>A	ENSP00000481988.1:n.*984T>A
NM_000465.3:c.2318T>A	NP_000456.2:p.Leu773His
NM_001282543.1:c.2261T>A	NP_001269472.1:p.Leu754His
NM_001282545.1:c.965T>A	NP_001269474.1:p.Leu322His
NM_001282548.1:c.908T>A	NP_001269477.1:p.Leu303His
NM_001282549.1:c.779T>A	NP_001269478.1:p.Leu260His
NR_104212.1:n.2311T>A
NR_104215.1:n.2254T>A
NR_104216.1:n.1510T>A
XM_011511567.1:c.2264T>A	XP_011509869.1:p.Leu755His
XM_017004613.1:c.2417T>A	XP_016860102.1:p.Leu806His
XR_002959322.1:n.2684T>A
NM_000465.4:c.2318T>A MANE Select	NP_000456.2:p.Leu773His
NM_001282543.2:c.2261T>A	NP_001269472.1:p.Leu754His
NM_001282545.2:c.965T>A	NP_001269474.1:p.Leu322His
NM_001282548.2:c.908T>A	NP_001269477.1:p.Leu303His
NM_001282549.2:c.779T>A	NP_001269478.1:p.Leu260His
NR_104212.2:n.2283T>A
NR_104215.2:n.2226T>A
NR_104216.2:n.1482T>A