Canonical Allele Identifier: CA350449753

Gene: BARD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2308T>G MANE Select	ENSP00000260947.4:p.Phe770Val
ENST00000421162.2:c.955T>G	ENSP00000392245.2:p.Phe319Val
ENST00000613192.2:c.*371T>G	ENSP00000483275.2:n.*371T>G
ENST00000613374.5:c.898T>G	ENSP00000484464.1:p.Phe300Val
ENST00000613706.5:c.1900T>G	ENSP00000484976.2:p.Phe634Val
ENST00000617164.5:c.2251T>G	ENSP00000480470.1:p.Phe751Val
ENST00000619009.5:c.769T>G	ENSP00000482293.1:p.Phe257Val
ENST00000650978.1:c.3683T>G
ENST00000260947.8:c.2308T>G	ENSP00000260947.4:p.Phe770Val
ENST00000432456.5:c.451T>G
ENST00000471590.5:n.643T>G
ENST00000613192.1:c.478T>G	ENSP00000483275.1:p.Phe160Val
ENST00000613374.4:c.898T>G	ENSP00000484464.1:p.Phe300Val
ENST00000613706.4:c.955T>G	ENSP00000484976.1:p.Phe319Val
ENST00000617164.4:c.2251T>G	ENSP00000480470.1:p.Phe751Val
ENST00000619009.4:c.769T>G	ENSP00000482293.1:p.Phe257Val
ENST00000620057.4:c.*974T>G	ENSP00000481988.1:n.*974T>G
NM_000465.3:c.2308T>G	NP_000456.2:p.Phe770Val
NM_001282543.1:c.2251T>G	NP_001269472.1:p.Phe751Val
NM_001282545.1:c.955T>G	NP_001269474.1:p.Phe319Val
NM_001282548.1:c.898T>G	NP_001269477.1:p.Phe300Val
NM_001282549.1:c.769T>G	NP_001269478.1:p.Phe257Val
NR_104212.1:n.2301T>G
NR_104215.1:n.2244T>G
NR_104216.1:n.1500T>G
XM_011511567.1:c.2254T>G	XP_011509869.1:p.Phe752Val
XM_017004613.1:c.2407T>G	XP_016860102.1:p.Phe803Val
XR_002959322.1:n.2674T>G
NM_000465.4:c.2308T>G MANE Select	NP_000456.2:p.Phe770Val
NM_001282543.2:c.2251T>G	NP_001269472.1:p.Phe751Val
NM_001282545.2:c.955T>G	NP_001269474.1:p.Phe319Val
NM_001282548.2:c.898T>G	NP_001269477.1:p.Phe300Val
NM_001282549.2:c.769T>G	NP_001269478.1:p.Phe257Val
NR_104212.2:n.2273T>G
NR_104215.2:n.2216T>G
NR_104216.2:n.1472T>G