Canonical Allele Identifier: CA64792571

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1789448
• ClinVar RCV Id: RCV002446455 ; RCV003607542
• dbSNP Id: rs868744803
• MyVariant Identifiers: chr2:g.215593423C>G (hg19) ; chr2:g.214728699C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728699C>G , CM000664.2:g.214728699C>G	GRCh38
NC_000002.11:g.215593423C>G , CM000664.1:g.215593423C>G	GRCh37
NC_000002.10:g.215301668C>G	NCBI36
NG_012047.2:g.86006G>C
NG_012047.3:g.86013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2311G>C MANE Select	ENSP00000260947.4:p.Glu771Gln
ENST00000421162.2:c.958G>C	ENSP00000392245.2:p.Glu320Gln
ENST00000613192.2:c.*374G>C	ENSP00000483275.2:n.*374G>C
ENST00000613374.5:c.901G>C	ENSP00000484464.1:p.Glu301Gln
ENST00000613706.5:c.1903G>C	ENSP00000484976.2:p.Glu635Gln
ENST00000617164.5:c.2254G>C	ENSP00000480470.1:p.Glu752Gln
ENST00000619009.5:c.772G>C	ENSP00000482293.1:p.Glu258Gln
ENST00000650978.1:c.3686G>C
ENST00000260947.8:c.2311G>C	ENSP00000260947.4:p.Glu771Gln
ENST00000432456.5:c.454G>C
ENST00000471590.5:n.646G>C
ENST00000613192.1:c.481G>C	ENSP00000483275.1:p.Glu161Gln
ENST00000613374.4:c.901G>C	ENSP00000484464.1:p.Glu301Gln
ENST00000613706.4:c.958G>C	ENSP00000484976.1:p.Glu320Gln
ENST00000617164.4:c.2254G>C	ENSP00000480470.1:p.Glu752Gln
ENST00000619009.4:c.772G>C	ENSP00000482293.1:p.Glu258Gln
ENST00000620057.4:c.*977G>C	ENSP00000481988.1:n.*977G>C
NM_000465.3:c.2311G>C	NP_000456.2:p.Glu771Gln
NM_001282543.1:c.2254G>C	NP_001269472.1:p.Glu752Gln
NM_001282545.1:c.958G>C	NP_001269474.1:p.Glu320Gln
NM_001282548.1:c.901G>C	NP_001269477.1:p.Glu301Gln
NM_001282549.1:c.772G>C	NP_001269478.1:p.Glu258Gln
NR_104212.1:n.2304G>C
NR_104215.1:n.2247G>C
NR_104216.1:n.1503G>C
XM_011511567.1:c.2257G>C	XP_011509869.1:p.Glu753Gln
XM_017004613.1:c.2410G>C	XP_016860102.1:p.Glu804Gln
XR_002959322.1:n.2677G>C
NM_000465.4:c.2311G>C MANE Select	NP_000456.2:p.Glu771Gln
NM_001282543.2:c.2254G>C	NP_001269472.1:p.Glu752Gln
NM_001282545.2:c.958G>C	NP_001269474.1:p.Glu320Gln
NM_001282548.2:c.901G>C	NP_001269477.1:p.Glu301Gln
NM_001282549.2:c.772G>C	NP_001269478.1:p.Glu258Gln
NR_104212.2:n.2276G>C
NR_104215.2:n.2219G>C
NR_104216.2:n.1475G>C