Canonical Allele Identifier: CA350449699

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593417G>T (hg19) ; chr2:g.214728693G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728693G>T , CM000664.2:g.214728693G>T	GRCh38
NC_000002.11:g.215593417G>T , CM000664.1:g.215593417G>T	GRCh37
NC_000002.10:g.215301662G>T	NCBI36
NG_012047.2:g.86012C>A
NG_012047.3:g.86019C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2317C>A MANE Select	ENSP00000260947.4:p.Leu773Ile
ENST00000421162.2:c.964C>A	ENSP00000392245.2:p.Leu322Ile
ENST00000613192.2:c.*380C>A	ENSP00000483275.2:n.*380C>A
ENST00000613374.5:c.907C>A	ENSP00000484464.1:p.Leu303Ile
ENST00000613706.5:c.1909C>A	ENSP00000484976.2:p.Leu637Ile
ENST00000617164.5:c.2260C>A	ENSP00000480470.1:p.Leu754Ile
ENST00000619009.5:c.778C>A	ENSP00000482293.1:p.Leu260Ile
ENST00000650978.1:c.3692C>A
ENST00000260947.8:c.2317C>A	ENSP00000260947.4:p.Leu773Ile
ENST00000432456.5:c.460C>A
ENST00000471590.5:n.652C>A
ENST00000613192.1:c.487C>A	ENSP00000483275.1:p.Leu163Ile
ENST00000613374.4:c.907C>A	ENSP00000484464.1:p.Leu303Ile
ENST00000613706.4:c.964C>A	ENSP00000484976.1:p.Leu322Ile
ENST00000617164.4:c.2260C>A	ENSP00000480470.1:p.Leu754Ile
ENST00000619009.4:c.778C>A	ENSP00000482293.1:p.Leu260Ile
ENST00000620057.4:c.*983C>A	ENSP00000481988.1:n.*983C>A
NM_000465.3:c.2317C>A	NP_000456.2:p.Leu773Ile
NM_001282543.1:c.2260C>A	NP_001269472.1:p.Leu754Ile
NM_001282545.1:c.964C>A	NP_001269474.1:p.Leu322Ile
NM_001282548.1:c.907C>A	NP_001269477.1:p.Leu303Ile
NM_001282549.1:c.778C>A	NP_001269478.1:p.Leu260Ile
NR_104212.1:n.2310C>A
NR_104215.1:n.2253C>A
NR_104216.1:n.1509C>A
XM_011511567.1:c.2263C>A	XP_011509869.1:p.Leu755Ile
XM_017004613.1:c.2416C>A	XP_016860102.1:p.Leu806Ile
XR_002959322.1:n.2683C>A
NM_000465.4:c.2317C>A MANE Select	NP_000456.2:p.Leu773Ile
NM_001282543.2:c.2260C>A	NP_001269472.1:p.Leu754Ile
NM_001282545.2:c.964C>A	NP_001269474.1:p.Leu322Ile
NM_001282548.2:c.907C>A	NP_001269477.1:p.Leu303Ile
NM_001282549.2:c.778C>A	NP_001269478.1:p.Leu260Ile
NR_104212.2:n.2282C>A
NR_104215.2:n.2225C>A
NR_104216.2:n.1481C>A