Canonical Allele Identifier: CA350449647

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593407T>G (hg19) ; chr2:g.214728683T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728683T>G , CM000664.2:g.214728683T>G	GRCh38
NC_000002.11:g.215593407T>G , CM000664.1:g.215593407T>G	GRCh37
NC_000002.10:g.215301652T>G	NCBI36
NG_012047.2:g.86022A>C
NG_012047.3:g.86029A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2327A>C MANE Select	ENSP00000260947.4:p.Asp776Ala
ENST00000421162.2:c.974A>C	ENSP00000392245.2:p.Asp325Ala
ENST00000613192.2:c.*390A>C	ENSP00000483275.2:n.*390A>C
ENST00000613374.5:c.917A>C	ENSP00000484464.1:p.Asp306Ala
ENST00000613706.5:c.1919A>C	ENSP00000484976.2:p.Asp640Ala
ENST00000617164.5:c.2270A>C	ENSP00000480470.1:p.Asp757Ala
ENST00000619009.5:c.788A>C	ENSP00000482293.1:p.Asp263Ala
ENST00000650978.1:c.3702A>C
ENST00000260947.8:c.2327A>C	ENSP00000260947.4:p.Asp776Ala
ENST00000432456.5:c.470A>C
ENST00000471590.5:n.662A>C
ENST00000613192.1:c.497A>C	ENSP00000483275.1:p.Asp166Ala
ENST00000613374.4:c.917A>C	ENSP00000484464.1:p.Asp306Ala
ENST00000613706.4:c.974A>C	ENSP00000484976.1:p.Asp325Ala
ENST00000617164.4:c.2270A>C	ENSP00000480470.1:p.Asp757Ala
ENST00000619009.4:c.788A>C	ENSP00000482293.1:p.Asp263Ala
ENST00000620057.4:c.*993A>C	ENSP00000481988.1:n.*993A>C
NM_000465.3:c.2327A>C	NP_000456.2:p.Asp776Ala
NM_001282543.1:c.2270A>C	NP_001269472.1:p.Asp757Ala
NM_001282545.1:c.974A>C	NP_001269474.1:p.Asp325Ala
NM_001282548.1:c.917A>C	NP_001269477.1:p.Asp306Ala
NM_001282549.1:c.788A>C	NP_001269478.1:p.Asp263Ala
NR_104212.1:n.2320A>C
NR_104215.1:n.2263A>C
NR_104216.1:n.1519A>C
XM_011511567.1:c.2273A>C	XP_011509869.1:p.Asp758Ala
XM_017004613.1:c.2426A>C	XP_016860102.1:p.Asp809Ala
XR_002959322.1:n.2693A>C
NM_000465.4:c.2327A>C MANE Select	NP_000456.2:p.Asp776Ala
NM_001282543.2:c.2270A>C	NP_001269472.1:p.Asp757Ala
NM_001282545.2:c.974A>C	NP_001269474.1:p.Asp325Ala
NM_001282548.2:c.917A>C	NP_001269477.1:p.Asp306Ala
NM_001282549.2:c.788A>C	NP_001269478.1:p.Asp263Ala
NR_104212.2:n.2292A>C
NR_104215.2:n.2235A>C
NR_104216.2:n.1491A>C