Canonical Allele Identifier: CA350449726

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593422T>G (hg19) ; chr2:g.214728698T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728698T>G , CM000664.2:g.214728698T>G	GRCh38
NC_000002.11:g.215593422T>G , CM000664.1:g.215593422T>G	GRCh37
NC_000002.10:g.215301667T>G	NCBI36
NG_012047.2:g.86007A>C
NG_012047.3:g.86014A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2312A>C MANE Select	ENSP00000260947.4:p.Glu771Ala
ENST00000421162.2:c.959A>C	ENSP00000392245.2:p.Glu320Ala
ENST00000613192.2:c.*375A>C	ENSP00000483275.2:n.*375A>C
ENST00000613374.5:c.902A>C	ENSP00000484464.1:p.Glu301Ala
ENST00000613706.5:c.1904A>C	ENSP00000484976.2:p.Glu635Ala
ENST00000617164.5:c.2255A>C	ENSP00000480470.1:p.Glu752Ala
ENST00000619009.5:c.773A>C	ENSP00000482293.1:p.Glu258Ala
ENST00000650978.1:c.3687A>C
ENST00000260947.8:c.2312A>C	ENSP00000260947.4:p.Glu771Ala
ENST00000432456.5:c.455A>C
ENST00000471590.5:n.647A>C
ENST00000613192.1:c.482A>C	ENSP00000483275.1:p.Glu161Ala
ENST00000613374.4:c.902A>C	ENSP00000484464.1:p.Glu301Ala
ENST00000613706.4:c.959A>C	ENSP00000484976.1:p.Glu320Ala
ENST00000617164.4:c.2255A>C	ENSP00000480470.1:p.Glu752Ala
ENST00000619009.4:c.773A>C	ENSP00000482293.1:p.Glu258Ala
ENST00000620057.4:c.*978A>C	ENSP00000481988.1:n.*978A>C
NM_000465.3:c.2312A>C	NP_000456.2:p.Glu771Ala
NM_001282543.1:c.2255A>C	NP_001269472.1:p.Glu752Ala
NM_001282545.1:c.959A>C	NP_001269474.1:p.Glu320Ala
NM_001282548.1:c.902A>C	NP_001269477.1:p.Glu301Ala
NM_001282549.1:c.773A>C	NP_001269478.1:p.Glu258Ala
NR_104212.1:n.2305A>C
NR_104215.1:n.2248A>C
NR_104216.1:n.1504A>C
XM_011511567.1:c.2258A>C	XP_011509869.1:p.Glu753Ala
XM_017004613.1:c.2411A>C	XP_016860102.1:p.Glu804Ala
XR_002959322.1:n.2678A>C
NM_000465.4:c.2312A>C MANE Select	NP_000456.2:p.Glu771Ala
NM_001282543.2:c.2255A>C	NP_001269472.1:p.Glu752Ala
NM_001282545.2:c.959A>C	NP_001269474.1:p.Glu320Ala
NM_001282548.2:c.902A>C	NP_001269477.1:p.Glu301Ala
NM_001282549.2:c.773A>C	NP_001269478.1:p.Glu258Ala
NR_104212.2:n.2277A>C
NR_104215.2:n.2220A>C
NR_104216.2:n.1476A>C