Canonical Allele Identifier: CA350449758

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593426A>T (hg19) ; chr2:g.214728702A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728702A>T , CM000664.2:g.214728702A>T	GRCh38
NC_000002.11:g.215593426A>T , CM000664.1:g.215593426A>T	GRCh37
NC_000002.10:g.215301671A>T	NCBI36
NG_012047.2:g.86003T>A
NG_012047.3:g.86010T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2308T>A MANE Select	ENSP00000260947.4:p.Phe770Ile
ENST00000421162.2:c.955T>A	ENSP00000392245.2:p.Phe319Ile
ENST00000613192.2:c.*371T>A	ENSP00000483275.2:n.*371T>A
ENST00000613374.5:c.898T>A	ENSP00000484464.1:p.Phe300Ile
ENST00000613706.5:c.1900T>A	ENSP00000484976.2:p.Phe634Ile
ENST00000617164.5:c.2251T>A	ENSP00000480470.1:p.Phe751Ile
ENST00000619009.5:c.769T>A	ENSP00000482293.1:p.Phe257Ile
ENST00000650978.1:c.3683T>A
ENST00000260947.8:c.2308T>A	ENSP00000260947.4:p.Phe770Ile
ENST00000432456.5:c.451T>A
ENST00000471590.5:n.643T>A
ENST00000613192.1:c.478T>A	ENSP00000483275.1:p.Phe160Ile
ENST00000613374.4:c.898T>A	ENSP00000484464.1:p.Phe300Ile
ENST00000613706.4:c.955T>A	ENSP00000484976.1:p.Phe319Ile
ENST00000617164.4:c.2251T>A	ENSP00000480470.1:p.Phe751Ile
ENST00000619009.4:c.769T>A	ENSP00000482293.1:p.Phe257Ile
ENST00000620057.4:c.*974T>A	ENSP00000481988.1:n.*974T>A
NM_000465.3:c.2308T>A	NP_000456.2:p.Phe770Ile
NM_001282543.1:c.2251T>A	NP_001269472.1:p.Phe751Ile
NM_001282545.1:c.955T>A	NP_001269474.1:p.Phe319Ile
NM_001282548.1:c.898T>A	NP_001269477.1:p.Phe300Ile
NM_001282549.1:c.769T>A	NP_001269478.1:p.Phe257Ile
NR_104212.1:n.2301T>A
NR_104215.1:n.2244T>A
NR_104216.1:n.1500T>A
XM_011511567.1:c.2254T>A	XP_011509869.1:p.Phe752Ile
XM_017004613.1:c.2407T>A	XP_016860102.1:p.Phe803Ile
XR_002959322.1:n.2674T>A
NM_000465.4:c.2308T>A MANE Select	NP_000456.2:p.Phe770Ile
NM_001282543.2:c.2251T>A	NP_001269472.1:p.Phe751Ile
NM_001282545.2:c.955T>A	NP_001269474.1:p.Phe319Ile
NM_001282548.2:c.898T>A	NP_001269477.1:p.Phe300Ile
NM_001282549.2:c.769T>A	NP_001269478.1:p.Phe257Ile
NR_104212.2:n.2273T>A
NR_104215.2:n.2216T>A
NR_104216.2:n.1472T>A